Kosaki Overgrowth Syndrome (KOGS) — Comprehensive Disease Characteristics Report

Target Disease

• Disease name: Kosaki overgrowth syndrome (KOGS)
• Category: Genetic overgrowth/connective-tissue disorder
• Causal gene: PDGFRB (platelet-derived growth factor receptor beta)
• Ontology mapping: MONDO MONDO_0014704 (“skeletal overgrowth–craniofacial dysmorphism–hyperelastic skin–white matter lesions syndrome”), used as an ontology-style label for the same entity in OpenTargets (OpenTargets Search: Kosaki overgrowth syndrome).

Table: This table summarizes the main disease names, cross-resource identifiers, and terminology mappings used for Kosaki overgrowth syndrome. It is useful for harmonizing OMIM/MONDO naming with the PDGFRB-related disease spectrum in a knowledge base.

1. Disease Information

Overview / definition

Kosaki overgrowth syndrome is an ultra-rare, clinically recognizable overgrowth/connective-tissue syndrome caused by heterozygous activating (gain-of-function) PDGFRB variants, classically presenting with postnatal skeletal overgrowth, hyperelastic/fragile skin with poor wound healing, lipodystrophy/progeroid features, scoliosis/joint contractures, and a characteristic neuroimaging pattern of periventricular white matter lesions and posterior fossa anomalies; an important recent expansion of the phenotype includes progressive, potentially fatal cerebrovascular and coronary aneurysms (foster2020kosakiovergrowthsyndrome pages 1-2, takenouchi2021progressivecerebraland pages 2-4, takenouchi2019kosakiovergrowthsyndrome pages 3-4).

Key identifiers (best available from accessible corpus)

• OMIM disease: 616592 (Kosaki overgrowth syndrome) (foster2020kosakiovergrowthsyndrome pages 1-2, minatogawa2017expansionofthe pages 1-2, gawlinski2018phenotypeexpansionand pages 1-4)
• OMIM gene: PDGFRB 173410 (foster2020kosakiovergrowthsyndrome pages 1-2, minatogawa2017expansionofthe pages 1-2)
• MONDO: MONDO_0014704 (OpenTargets mapping) (OpenTargets Search: Kosaki overgrowth syndrome)

Not found in the currently accessible full-text corpus: Orphanet ID, MeSH ID, ICD-10/ICD-11 codes.

Synonyms / alternative names

• “KOGS” (common abbreviation) (foster2020kosakiovergrowthsyndrome pages 1-2)
• “PDGFRB-related overgrowth syndrome” / part of a “PDGFRB activating variant spectrum” (broader umbrella across overlapping phenotypes) (wenger2020activatingvariantsin pages 2-4, wenger2020activatingvariantsin pages 14-15)
• Ontology-style name emphasizing core features: “skeletal overgrowth–craniofacial dysmorphism–hyperelastic skin–white matter lesions syndrome” (OpenTargets Search: Kosaki overgrowth syndrome)

Evidence type

The KOGS knowledge base is primarily derived from individual patients in case reports/case series and subsequent synthesis reviews (e.g., 2017 expansion; 2019 clinical review; 2020 case series with vascular complications; 2021 longitudinal imaging of original patients) (minatogawa2017expansionofthe pages 1-2, takenouchi2019kosakiovergrowthsyndrome pages 3-4, foster2020kosakiovergrowthsyndrome pages 1-2, takenouchi2021progressivecerebraland pages 2-4).

2. Etiology

Disease causal factors

Primary cause: germline gain-of-function PDGFRB variants (typically missense) leading to constitutive receptor tyrosine kinase signaling (minatogawa2017expansionofthe pages 1-2, takenouchi2019kosakiovergrowthsyndrome pages 1-3, foster2020kosakiovergrowthsyndrome pages 10-11).

A mechanistic genotype contrast is explicitly described: “hypermorphic mutations in PDGFRB lead to Kosaki overgrowth syndrome… whereas hypomorphic mutations lead to idiopathic basal ganglia calcification” (minatogawa2017expansionofthe pages 1-2).

Risk factors

• Genetic: presence of a germline activating PDGFRB variant; de novo occurrence is common in classic KOGS (minatogawa2017expansionofthe pages 1-2, foster2020kosakiovergrowthsyndrome pages 1-2, gawlinski2018phenotypeexpansionand pages 1-4).
• Age-related progression risk: vascular complications appear progressive and may emerge with age; Foster et al. note that features are progressive and it is “probably that vascular complications may develop with age” (foster2020kosakiovergrowthsyndrome pages 10-11).

No environmental risk modifiers have been established in the accessible literature.

Protective factors / Gene–environment interaction

No protective factors or gene–environment interaction evidence specific to KOGS was identified in the accessible corpus.

3. Phenotypes

Phenotypic spectrum (with suggested HPO terms)

Table: This table summarizes the reported clinical and imaging features of Kosaki overgrowth syndrome, including approximate frequencies where available from small case series and reviews. It also suggests HPO mappings to support structured disease-knowledge-base annotation.

Key phenotype frequencies / statistics (from small cohorts)

From Takenouchi et al. (2019) synthesis of the early cohort: - Periventricular white matter signal abnormalities: 100% (takenouchi2019kosakiovergrowthsyndrome pages 3-4) - Posterior fossa arachnoid cysts/anomalies: ~83% (takenouchi2019kosakiovergrowthsyndrome pages 3-4) - Lipodystrophy: ~83% (takenouchi2019kosakiovergrowthsyndrome pages 3-4) - Craniosynostosis: ~33% (takenouchi2019kosakiovergrowthsyndrome pages 3-4) - Intellectual disability (IQ < 70): ~20% (takenouchi2019kosakiovergrowthsyndrome pages 3-4) - Infantile myofibromatosis/myofibromas: ~33% (takenouchi2019kosakiovergrowthsyndrome pages 3-4, takenouchi2019kosakiovergrowthsyndrome pages 1-3) - Cardiac abnormalities: at least 2/6 early reported patients (takenouchi2019kosakiovergrowthsyndrome pages 3-4, takenouchi2019kosakiovergrowthsyndrome pages 4-5)

Vascular phenotype and real-world impact

Cerebrovascular complications have become central to current understanding. Foster et al. report “fusiform aneurysm of the basilar artery” with severe outcomes including thrombosis/stroke and fatal rupture, concluding that “cerebrovascular complications are part of the phenotypic spectrum” and that “vascular imaging is indicated” (foster2020kosakiovergrowthsyndrome pages 1-2). Longitudinal follow-up of the original patients demonstrated progressive basilar/vertebral and coronary arterial dilation and aneurysm evolution beginning in adolescence/early adulthood (takenouchi2021progressivecerebraland pages 2-4).

Quality-of-life impact

In the broader PDGFRB activating-variant spectrum, imatinib therapy in one severe pediatric case was reported to improve multiple manifestations and “most importantly significant improvement in quality of life” (wenger2020activatingvariantsin pages 12-14). Although not exclusively KOGS, this informs real-world functional outcomes for PDGFRB-driven progressive connective-tissue disease.

4. Genetic / Molecular Information

Causal gene

• PDGFRB (receptor tyrosine kinase) is the established causal gene (minatogawa2017expansionofthe pages 1-2, takenouchi2019kosakiovergrowthsyndrome pages 1-3).

Pathogenic variant spectrum

Recurrent KOGS-associated variants described in multiple unrelated patients include: - PDGFRB c.1751C>G p.(Pro584Arg) (minatogawa2017expansionofthe pages 1-2, gawlinski2018phenotypeexpansionand pages 1-4, takenouchi2019kosakiovergrowthsyndrome pages 1-3) - PDGFRB c.1696T>C p.(Trp566Arg) (minatogawa2017expansionofthe pages 1-2, gawlinski2018phenotypeexpansionand pages 1-4, takenouchi2019kosakiovergrowthsyndrome pages 1-3)

A later case series added a novel de novo variant: - PDGFRB c.1477A>T p.(Ser493Cys) (foster2020kosakiovergrowthsyndrome pages 1-2, foster2020kosakiovergrowthsyndrome pages 2-4)

These are described as activating / gain-of-function and are interpreted as pathogenic/likely pathogenic in clinical genetics practice (minatogawa2017expansionofthe pages 1-2, foster2020kosakiovergrowthsyndrome pages 2-4).

Inheritance pattern and mosaicism

KOGS is most often autosomal dominant due to de novo heterozygous variants in PDGFRB (minatogawa2017expansionofthe pages 1-2, gawlinski2018phenotypeexpansionand pages 1-4, foster2020kosakiovergrowthsyndrome pages 2-4). However, the broader PDGFRB activating-variant spectrum includes variable expressivity, adult-onset manifestations, and mosaic presentations (wenger2020activatingvariantsin pages 2-4, chenbhanich2021segmentalovergrowthand pages 1-2).

A key diagnostic lesson from mosaic PDGFRB vascular/overgrowth disease: blood exome may be negative; affected-tissue testing can reveal mosaic variants absent from blood (chenbhanich2021segmentalovergrowthand pages 1-2, chenbhanich2021segmentalovergrowthand pages 2-4).

Modifier genes / epigenetics

No validated human modifier genes for KOGS were identified in the accessible corpus, but mechanistic work indicates STAT1 acts as a major genetic modifier of phenotypic direction (wasting vs overgrowth) in a PDGFRβ-activating mouse model (he2017stat1modulatestissue pages 8-9).

5. Environmental Information

No non-genetic environmental, lifestyle, or infectious contributors have been established for KOGS in the accessible literature.

6. Mechanism / Pathophysiology

Current mechanistic understanding (causal chain)

1. Trigger: germline activating PDGFRB variant → ligand-independent PDGFRβ activation (maurer2025knowingandtreating pages 2-2, he2017stat1modulatestissue pages 2-3).
2. Cellular signaling consequences: downstream signaling varies by allele strength and context, including:
3. STAT1 phosphorylation / interferon-like transcriptional programs described as a general feature of PDGFRβ-activating mutations (he2017stat1modulatestissue pages 2-3, guerit2021pdgfreceptormutations pages 6-8).
4. PI3K–AKT pathway activation reported in at least one individual with KOGS and discussed as a mechanism for overgrowth/cardiovascular abnormalities (wenger2020activatingvariantsin pages 16-16, foster2020kosakiovergrowthsyndrome pages 10-11).
5. Tissue-level outcomes: dysregulated mesenchymal/perivascular signaling alters connective tissue and vascular integrity, plausibly driving:
6. Skeletal overgrowth (abnormal growth and bone remodeling)
7. Skin hyperextensibility/fragility (extracellular matrix remodeling)
8. Lipodystrophy/progeroid features (adipose progenitor differentiation shifts toward pro-fibrotic states)
9. Pericyte/vascular smooth muscle dysfunction → arterial ectasia/tortuosity → aneurysm risk (PDGFRB expression in pericytes and vascular smooth muscle is highlighted in the aneurysm/overgrowth mosaic report) (chenbhanich2021segmentalovergrowthand pages 2-4, guerit2021pdgfreceptormutations pages 8-9).

Proposed ontology terms

• GO (biological process): receptor tyrosine kinase signaling; PI3K signaling; JAK-STAT signaling; extracellular matrix organization; regulation of vascular smooth muscle cell proliferation; pericyte development.
• CL (cell types): pericyte; vascular smooth muscle cell; fibroblast; mesenchymal progenitor cell (chenbhanich2021segmentalovergrowthand pages 2-4, guerit2021pdgfreceptormutations pages 8-9).
• UBERON (anatomy): cerebral arteries (basilar/vertebral); coronary arteries; white matter of cerebral hemispheres; posterior fossa.

Recent developments (2023–2024 priority)

A 2024 overgrowth diagnostics review emphasizes that clinicians “should consider molecular genetic testing as a first diagnostic step in overgrowth syndromes” and highlights AI-assisted phenotype-driven approaches and deep sequencing for mosaicism detection (prawitt2024molecularmechanismsof pages 1-2, prawitt2024molecularmechanismsof pages 9-10). While not KOGS-specific, these methods are directly applicable to PDGFRB-related overgrowth, especially where mosaicism is suspected.

7. Anatomical Structures Affected

Organ / system level

• Musculoskeletal: long bone overgrowth, scoliosis, contractures; craniosynostosis (takenouchi2019kosakiovergrowthsyndrome pages 3-4, gawlinski2018phenotypeexpansionand pages 1-4).
• Skin/adipose/connective tissue: hyperelastic fragile skin; progressive lipodystrophy (takenouchi2019kosakiovergrowthsyndrome pages 4-5, takenouchi2019kosakiovergrowthsyndrome pages 3-4).
• Central nervous system: periventricular white matter lesions; posterior fossa arachnoid cysts/protrusion; hydrocephalus/Dandy-Walker variant in some cases (takenouchi2019kosakiovergrowthsyndrome pages 3-4, minatogawa2017expansionofthe pages 1-2, foster2020kosakiovergrowthsyndrome pages 2-4).
• Cardiovascular: coronary aneurysms and other cardiac abnormalities; progressive cerebrovascular aneurysms/dolichoectasia (takenouchi2019kosakiovergrowthsyndrome pages 4-5, takenouchi2021progressivecerebraland pages 2-4, foster2020kosakiovergrowthsyndrome pages 1-2).

Tissue/cell level (inferred from mechanistic/vascular reports)

• Perivascular cells: pericytes and vascular smooth muscle cells (chenbhanich2021segmentalovergrowthand pages 2-4).
• Connective tissue fibroblasts/mesenchymal cells: implicated by PDGFRβ biology and mouse models (he2017stat1modulatestissue pages 8-9).

8. Temporal Development

Onset

KOGS is described primarily as postnatal skeletal overgrowth (foster2020kosakiovergrowthsyndrome pages 1-2, takenouchi2019kosakiovergrowthsyndrome pages 3-4).

Progression

Multiple features are described as progressive, including progeroid appearance and vascular complications (foster2020kosakiovergrowthsyndrome pages 10-11). Serial imaging in original patients demonstrated progressive cerebrovascular and coronary artery dilation beginning in teenage years/early 20s (takenouchi2021progressivecerebraland pages 2-4).

9. Inheritance and Population

Epidemiology

No robust prevalence/incidence estimates were identified in the accessible corpus. Available evidence supports that KOGS is ultra-rare.

Case counts / rarity statistics (available)

• Foster et al. state KOGS was first described in 2015 and that “to date, six patients have been reported” prior to their three additional cases (foster2020kosakiovergrowthsyndrome pages 1-2).
• A collaborative consortium document summarizes that published case reports comprise “around 10” to “about 15” patients worldwide (maurer2025knowingandtreating pages 2-2).

Inheritance nuances

• Predominantly de novo autosomal dominant (minatogawa2017expansionofthe pages 1-2, gawlinski2018phenotypeexpansionand pages 1-4).
• Mosaicism can produce related segmental overgrowth/aneurysm phenotypes and can require tissue testing (chenbhanich2021segmentalovergrowthand pages 1-2, chenbhanich2021segmentalovergrowthand pages 2-4).

Penetrance cannot be reliably estimated due to the very small number of described individuals.

10. Diagnostics

Clinical recognition

A key diagnostic gestalt is the constellation of skeletal overgrowth + characteristic skin/connective-tissue features + CNS white matter lesions/posterior fossa findings; Takenouchi et al. state that this phenotype “should prompt genetic analysis of the PDGFRB” (takenouchi2019kosakiovergrowthsyndrome pages 1-3).

Genetic testing approaches used in reported cases

• Exome sequencing, targeted overgrowth panel, and whole-genome sequencing have all been used to identify PDGFRB variants in KOGS (foster2020kosakiovergrowthsyndrome pages 2-4).
• Sanger confirmation and parental testing used to establish de novo status (foster2020kosakiovergrowthsyndrome pages 2-4).
• For suspected mosaic vascular/segmental disease: authors advise “Germline and/or somatic testing for PDGFRB gene should be obtained” and document cases where blood exome was not diagnostic but tissue testing was (chenbhanich2021segmentalovergrowthand pages 1-2, chenbhanich2021segmentalovergrowthand pages 2-4).

Imaging and monitoring at/after diagnosis

• Foster et al. recommend baseline vascular screening: “baseline vascular screening with echocardiogram, cerebral MRI and angioMRI… at diagnosis and again in adult life” (foster2020kosakiovergrowthsyndrome pages 10-11).
• Wenger et al. recommend MRA at diagnosis and intermittently and broader vascular screening (brain/neck/chest/abdomen/pelvis) in the PDGFRB activating-variant spectrum, motivated by aneurysm risk (wenger2020activatingvariantsin pages 14-15).

Differential diagnosis

• Shprintzen–Goldberg syndrome and atypical Ehlers–Danlos syndrome were considered clinically in one KOGS case before genetic diagnosis (foster2020kosakiovergrowthsyndrome pages 2-4).
• Other overgrowth differentials in broader workups include Sotos, Weaver, and Beckwith–Wiedemann spectrum (kamien2018aclinicalreview pages 8-11).
• Other PDGFRB-related differentials: Penttinen syndrome, infantile myofibromatosis, and idiopathic basal ganglia calcification (takenouchi2019kosakiovergrowthsyndrome pages 1-3, minatogawa2017expansionofthe pages 1-2).

11. Outcome / Prognosis

Long-term outcome is incompletely defined due to rarity, but major morbidity and mortality contributors are increasingly recognized as progressive vascular aneurysms.

• Foster et al. document thrombotic stroke and fatal rupture, emphasizing serious cerebrovascular risk (foster2020kosakiovergrowthsyndrome pages 1-2).
• In the original patients, progressive basilar/vertebral and coronary dilation could lead to fatal complications even with interventions (takenouchi2021progressivecerebraland pages 2-4).

12. Treatment

Targeted therapies (precision medicine)

Evidence supports PDGFRB activating disorders as kinase-dependent and potentially responsive to TKIs: - Foster et al.: activating PDGFRB variants “are responsive to imatinib… suggesting that individuals with KOGS might also be candidates for treatment with tyrosine kinase inhibitors” (foster2020kosakiovergrowthsyndrome pages 10-11). - Wenger et al. report “robust and rapid” clinical responses to imatinib in several PDGFRB-activating cases; one severe case improved contractures and “significant improvement in quality of life” (wenger2020activatingvariantsin pages 12-14, wenger2020activatingvariantsin pages 2-4, wenger2020activatingvariantsin pages 14-15). - Mosaic PDGFRB p.Tyr562Cys aneurysm/overgrowth disease included sorafenib exposure, but aneurysm progression and rupture still occurred (chenbhanich2021segmentalovergrowthand pages 2-4).

Supportive/monitoring management

• Vascular surveillance imaging (echocardiogram + MRI/MRA; potentially whole-body arterial imaging) is repeatedly recommended given progressive aneurysm risk (foster2020kosakiovergrowthsyndrome pages 10-11, wenger2020activatingvariantsin pages 14-15, chenbhanich2021segmentalovergrowthand pages 1-2).
• Optimal blood pressure control is recommended to reduce vascular wall tension and potentially slow dilation (takenouchi2021progressivecerebraland pages 2-4, takenouchi2021progressivecerebraland pages 4-5).

MAXO suggestions

Representative MAXO mappings are summarized in the management artifact.

Table: This table summarizes currently reported diagnostic strategies, vascular surveillance approaches, and targeted management options for Kosaki overgrowth syndrome and the broader PDGFRB activating variant spectrum. It highlights where evidence is strongest, especially for imaging surveillance and tyrosine kinase inhibitor use.

Clinical trials / real-world implementations

ClinicalTrials.gov NCT05953857 (“Knowing and Treating Kosaki/Penttinen Syndromes”, IKKoPeS) is a prospective observational study designed to follow treated and untreated patients with activating PDGFRB variants and to assess whether TKIs “could bring clinical benefit” (first posted 2023-07-20, estimated start 2023-10, estimated enrollment 30; estimated completion 2048-10) (NCT05953857 chunk 1). Primary/secondary outcomes include symptom burden and the proportion with QoL improvement or side effects under TKI (NCT05953857 chunk 1).

URL: https://clinicaltrials.gov/study/NCT05953857 (registry details summarized from record) (NCT05953857 chunk 1).

13. Prevention

Primary prevention is not applicable for a de novo genetic disorder. However, secondary/tertiary prevention is clinically relevant: - Genetic counseling for recurrence risk (typically low for de novo, but consider parental mosaicism in principle). - Surveillance to prevent complications: early vascular screening and repeat imaging to detect aneurysms before rupture/thrombosis (foster2020kosakiovergrowthsyndrome pages 10-11, takenouchi2021progressivecerebraland pages 2-4).

14. Other Species / Natural Disease

No naturally occurring veterinary analogs of KOGS were identified in the accessible corpus.

15. Model Organisms

A key mechanistic model is the Pdgfrb gain-of-function mouse (e.g., Pdgfrb D849V). STAT1 acts as a modifier that can shift phenotype between autoinflammatory wasting and progressive overgrowth, mapping conceptually onto the Penttinen vs Kosaki phenotypic axis and supporting PDGFRB hyperactivity as a driver mechanism (he2017stat1modulatestissue pages 8-9, he2017stat1modulatestissue pages 2-3).

2023–2024 “Latest research” highlights (highest relevance within accessible corpus)

• Overgrowth diagnostics modernization (2024): increased emphasis on early genomic testing (WES/WGS and deep sequencing for mosaicism) and the integration of AI-supported phenotype-to-genotype workflows in overgrowth disorders (prawitt2024molecularmechanismsof pages 1-2, prawitt2024molecularmechanismsof pages 9-10).
• Real-world longitudinal research infrastructure (2023): formal long-term observational study registration for KOGS/Penttinen syndromes focused on TKI benefit/risk and symptom burden (NCT05953857; first posted 2023-07-20) (NCT05953857 chunk 1).

Key evidence quotes (for knowledge-base evidence items)

• Vascular surveillance recommendation: “we suggest that clinicians consider baseline vascular screening with echocardiogram, cerebral MRI and angioMRI for individuals with KOGS at diagnosis and again in adult life” (foster2020kosakiovergrowthsyndrome pages 10-11).
• KOGS vascular phenotype conclusion: “cerebrovascular complications are part of the phenotypic spectrum” and “vascular imaging is indicated” (foster2020kosakiovergrowthsyndrome pages 1-2).
• Genotype–phenotype contrast: “hypermorphic mutations in PDGFRB lead to Kosaki overgrowth syndrome… whereas hypomorphic mutations lead to idiopathic basal ganglia calcification” (minatogawa2017expansionofthe pages 1-2).
• Spectrum/QoL under targeted therapy: imatinib improved disease manifestations and “most importantly significant improvement in quality of life” in a severe PDGFRB-activating case (wenger2020activatingvariantsin pages 12-14).

Notes on gaps / limitations of this report

• Several identifiers (Orphanet, MeSH, ICD-10/ICD-11) and population prevalence/incidence estimates were not retrievable from the currently accessible full-text corpus and are therefore not asserted here.
• Published evidence is largely case-based; frequencies and prognostic estimates are based on small numbers and may change as registries (e.g., NCT05953857) mature.

References

1. (OpenTargets Search: Kosaki overgrowth syndrome): Open Targets Query (Kosaki overgrowth syndrome, 1 results). Buniello, A. et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research.

2. (foster2020kosakiovergrowthsyndrome pages 1-2): Alison Foster, Basile Chalot, Thalia Antoniadi, Elise Schaefer, Rebecca Keelagher, Gavin Ryan, Quentin Thomas, Christophe Philippe, Ange‐Line Bruel, Arthur Sorlin, Christel Thauvin‐Robinet, Marc Bardou, Maxime Luu, Veronique Quenardelle, Valerie Wolff, Jessica Woodley, Pierre Vabres, Derek Lim, Rebecca Igbokwe, Annie Joseph, Harriet Walker, Andrea Jester, Jonathan Ellenbogen, Diana Johnson, Bethanie Rooke, Celia Moss, Trevor Cole, and Laurence Faivre. Kosaki overgrowth syndrome: a novel pathogenic variant in pdgfrb and expansion of the phenotype including cerebrovascular complications. Clinical Genetics, 98:19-31, May 2020. URL: https://doi.org/10.1111/cge.13752, doi:10.1111/cge.13752. This article has 31 citations and is from a peer-reviewed journal.

3. (minatogawa2017expansionofthe pages 1-2): Mari Minatogawa, Toshiki Takenouchi, Yu Tsuyusaki, Fuminori Iwasaki, Tomoko Uehara, Kenji Kurosawa, Kenjiro Kosaki, and Cynthia J. Curry. Expansion of the phenotype of kosaki overgrowth syndrome. American Journal of Medical Genetics Part A, 173:2422-2427, Jun 2017. URL: https://doi.org/10.1002/ajmg.a.38310, doi:10.1002/ajmg.a.38310. This article has 45 citations.

4. (gawlinski2018phenotypeexpansionand pages 1-4): Paweł Gawliński, M. Pelc, E. Ciara, S. Jhangiani, Elżbieta Jurkiewicz, Tomasz Gambin, Tomasz Gambin, Agnieszka Różdżyńska-Świątkowska, M. Dawidziuk, Z. Coban-Akdemir, D. L. Guilbride, D. Muzny, J. R. Lupski, J. R. Lupski, and M. Krajewska-Walasek. Phenotype expansion and development in kosaki overgrowth syndrome. Clinical Genetics, 93:919-924, Apr 2018. URL: https://doi.org/10.1111/cge.13192, doi:10.1111/cge.13192. This article has 31 citations and is from a peer-reviewed journal.

5. (takenouchi2019kosakiovergrowthsyndrome pages 1-3): Toshiki Takenouchi, Hironobu Okuno, and Kenjiro Kosaki. Kosaki overgrowth syndrome: a newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 181:650-657, Nov 2019. URL: https://doi.org/10.1002/ajmg.c.31755, doi:10.1002/ajmg.c.31755. This article has 19 citations.

6. (takenouchi2021progressivecerebraland pages 4-5): Toshiki Takenouchi, Kazuki Kodo, Fumito Yamazaki, Hirofumi Nakatomi, and Kenjiro Kosaki. Progressive cerebral and coronary aneurysms in the original two patients with kosaki overgrowth syndrome. American Journal of Medical Genetics Part A, 185:1003-999, Dec 2021. URL: https://doi.org/10.1002/ajmg.a.62027, doi:10.1002/ajmg.a.62027. This article has 6 citations.

7. (wenger2020activatingvariantsin pages 2-4): Tara L. Wenger, Randall A. Bly, Natalie Wu, Catherine M. Albert, Julie Park, Joseph Shieh, Jirat Chenbhanich, Carrie L. Heike, Margaret P. Adam, Irene Chang, Angela Sun, Danny E. Miller, Anita E. Beck, Deepti Gupta, Markus D. Boos, Elaine H. Zackai, David Everman, Shireen Ganapathi, Meredith Wilson, John Christodoulou, Yuri A. Zarate, Cynthia Curry, Dong Li, Anne Guimier, Jeanne Amiel, Hakon Hakonarson, Richard Webster, Elizabeth J. Bhoj, Jonathan A. Perkins, John P. Dahl, and William B. Dobyns. Activating variants in pdgfrb result in a spectrum of disorders responsive to imatinib monotherapy. American Journal of Medical Genetics Part A, 182:1576-1591, Jun 2020. URL: https://doi.org/10.1002/ajmg.a.61615, doi:10.1002/ajmg.a.61615. This article has 37 citations.

8. (wenger2020activatingvariantsin pages 14-15): Tara L. Wenger, Randall A. Bly, Natalie Wu, Catherine M. Albert, Julie Park, Joseph Shieh, Jirat Chenbhanich, Carrie L. Heike, Margaret P. Adam, Irene Chang, Angela Sun, Danny E. Miller, Anita E. Beck, Deepti Gupta, Markus D. Boos, Elaine H. Zackai, David Everman, Shireen Ganapathi, Meredith Wilson, John Christodoulou, Yuri A. Zarate, Cynthia Curry, Dong Li, Anne Guimier, Jeanne Amiel, Hakon Hakonarson, Richard Webster, Elizabeth J. Bhoj, Jonathan A. Perkins, John P. Dahl, and William B. Dobyns. Activating variants in pdgfrb result in a spectrum of disorders responsive to imatinib monotherapy. American Journal of Medical Genetics Part A, 182:1576-1591, Jun 2020. URL: https://doi.org/10.1002/ajmg.a.61615, doi:10.1002/ajmg.a.61615. This article has 37 citations.

9. (takenouchi2021progressivecerebraland pages 2-4): Toshiki Takenouchi, Kazuki Kodo, Fumito Yamazaki, Hirofumi Nakatomi, and Kenjiro Kosaki. Progressive cerebral and coronary aneurysms in the original two patients with kosaki overgrowth syndrome. American Journal of Medical Genetics Part A, 185:1003-999, Dec 2021. URL: https://doi.org/10.1002/ajmg.a.62027, doi:10.1002/ajmg.a.62027. This article has 6 citations.

10. (takenouchi2019kosakiovergrowthsyndrome pages 3-4): Toshiki Takenouchi, Hironobu Okuno, and Kenjiro Kosaki. Kosaki overgrowth syndrome: a newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 181:650-657, Nov 2019. URL: https://doi.org/10.1002/ajmg.c.31755, doi:10.1002/ajmg.c.31755. This article has 19 citations.

11. (foster2020kosakiovergrowthsyndrome pages 10-11): Alison Foster, Basile Chalot, Thalia Antoniadi, Elise Schaefer, Rebecca Keelagher, Gavin Ryan, Quentin Thomas, Christophe Philippe, Ange‐Line Bruel, Arthur Sorlin, Christel Thauvin‐Robinet, Marc Bardou, Maxime Luu, Veronique Quenardelle, Valerie Wolff, Jessica Woodley, Pierre Vabres, Derek Lim, Rebecca Igbokwe, Annie Joseph, Harriet Walker, Andrea Jester, Jonathan Ellenbogen, Diana Johnson, Bethanie Rooke, Celia Moss, Trevor Cole, and Laurence Faivre. Kosaki overgrowth syndrome: a novel pathogenic variant in pdgfrb and expansion of the phenotype including cerebrovascular complications. Clinical Genetics, 98:19-31, May 2020. URL: https://doi.org/10.1111/cge.13752, doi:10.1111/cge.13752. This article has 31 citations and is from a peer-reviewed journal.

12. (takenouchi2019kosakiovergrowthsyndrome pages 4-5): Toshiki Takenouchi, Hironobu Okuno, and Kenjiro Kosaki. Kosaki overgrowth syndrome: a newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 181:650-657, Nov 2019. URL: https://doi.org/10.1002/ajmg.c.31755, doi:10.1002/ajmg.c.31755. This article has 19 citations.

13. (foster2020kosakiovergrowthsyndrome pages 8-9): Alison Foster, Basile Chalot, Thalia Antoniadi, Elise Schaefer, Rebecca Keelagher, Gavin Ryan, Quentin Thomas, Christophe Philippe, Ange‐Line Bruel, Arthur Sorlin, Christel Thauvin‐Robinet, Marc Bardou, Maxime Luu, Veronique Quenardelle, Valerie Wolff, Jessica Woodley, Pierre Vabres, Derek Lim, Rebecca Igbokwe, Annie Joseph, Harriet Walker, Andrea Jester, Jonathan Ellenbogen, Diana Johnson, Bethanie Rooke, Celia Moss, Trevor Cole, and Laurence Faivre. Kosaki overgrowth syndrome: a novel pathogenic variant in pdgfrb and expansion of the phenotype including cerebrovascular complications. Clinical Genetics, 98:19-31, May 2020. URL: https://doi.org/10.1111/cge.13752, doi:10.1111/cge.13752. This article has 31 citations and is from a peer-reviewed journal.

14. (foster2020kosakiovergrowthsyndrome pages 2-4): Alison Foster, Basile Chalot, Thalia Antoniadi, Elise Schaefer, Rebecca Keelagher, Gavin Ryan, Quentin Thomas, Christophe Philippe, Ange‐Line Bruel, Arthur Sorlin, Christel Thauvin‐Robinet, Marc Bardou, Maxime Luu, Veronique Quenardelle, Valerie Wolff, Jessica Woodley, Pierre Vabres, Derek Lim, Rebecca Igbokwe, Annie Joseph, Harriet Walker, Andrea Jester, Jonathan Ellenbogen, Diana Johnson, Bethanie Rooke, Celia Moss, Trevor Cole, and Laurence Faivre. Kosaki overgrowth syndrome: a novel pathogenic variant in pdgfrb and expansion of the phenotype including cerebrovascular complications. Clinical Genetics, 98:19-31, May 2020. URL: https://doi.org/10.1111/cge.13752, doi:10.1111/cge.13752. This article has 31 citations and is from a peer-reviewed journal.

15. (maurer2025knowingandtreating pages 2-2): A Maurer, L Mirakovska, A Foster, and K Kosaki. 'knowing and treating kosaki/penttinen syndrome'international collaborative consortium: recommendations for follow-up, natural history and a real-life observational …. Unknown journal, 2025.

16. (wenger2020activatingvariantsin pages 12-14): Tara L. Wenger, Randall A. Bly, Natalie Wu, Catherine M. Albert, Julie Park, Joseph Shieh, Jirat Chenbhanich, Carrie L. Heike, Margaret P. Adam, Irene Chang, Angela Sun, Danny E. Miller, Anita E. Beck, Deepti Gupta, Markus D. Boos, Elaine H. Zackai, David Everman, Shireen Ganapathi, Meredith Wilson, John Christodoulou, Yuri A. Zarate, Cynthia Curry, Dong Li, Anne Guimier, Jeanne Amiel, Hakon Hakonarson, Richard Webster, Elizabeth J. Bhoj, Jonathan A. Perkins, John P. Dahl, and William B. Dobyns. Activating variants in pdgfrb result in a spectrum of disorders responsive to imatinib monotherapy. American Journal of Medical Genetics Part A, 182:1576-1591, Jun 2020. URL: https://doi.org/10.1002/ajmg.a.61615, doi:10.1002/ajmg.a.61615. This article has 37 citations.

17. (chenbhanich2021segmentalovergrowthand pages 1-2): Jirat Chenbhanich, Yan Hu, Steven Hetts, Daniel Cooke, Christopher Dowd, Patrick Devine, Bianca Russell, Sung Hae L. Kang, Vivian Y. Chang, Adib A. Abla, Patricia Cornett, Iwei Yeh, Hane Lee, Julian A. Martinez‐Agosto, Ilona J. Frieden, and Joseph T. Shieh. Segmental overgrowth and aneurysms due to mosaic pdgfrb p.(tyr562cys). American Journal of Medical Genetics Part A, 185:1430-1436, Mar 2021. URL: https://doi.org/10.1002/ajmg.a.62126, doi:10.1002/ajmg.a.62126. This article has 16 citations.

18. (chenbhanich2021segmentalovergrowthand pages 2-4): Jirat Chenbhanich, Yan Hu, Steven Hetts, Daniel Cooke, Christopher Dowd, Patrick Devine, Bianca Russell, Sung Hae L. Kang, Vivian Y. Chang, Adib A. Abla, Patricia Cornett, Iwei Yeh, Hane Lee, Julian A. Martinez‐Agosto, Ilona J. Frieden, and Joseph T. Shieh. Segmental overgrowth and aneurysms due to mosaic pdgfrb p.(tyr562cys). American Journal of Medical Genetics Part A, 185:1430-1436, Mar 2021. URL: https://doi.org/10.1002/ajmg.a.62126, doi:10.1002/ajmg.a.62126. This article has 16 citations.

19. (he2017stat1modulatestissue pages 8-9): Chaoyong He, Shayna C. Medley, Jang Kim, Chengyi Sun, Hae Ryong Kwon, Hiromi Sakashita, Yair Pincu, Longbiao Yao, Danielle Eppard, Bojie Dai, William L. Berry, Timothy M. Griffin, and Lorin E. Olson. Stat1 modulates tissue wasting or overgrowth downstream from pdgfrβ. Genes & Development, 31:1666-1678, Aug 2017. URL: https://doi.org/10.1101/gad.300384.117, doi:10.1101/gad.300384.117. This article has 47 citations and is from a highest quality peer-reviewed journal.

20. (he2017stat1modulatestissue pages 2-3): Chaoyong He, Shayna C. Medley, Jang Kim, Chengyi Sun, Hae Ryong Kwon, Hiromi Sakashita, Yair Pincu, Longbiao Yao, Danielle Eppard, Bojie Dai, William L. Berry, Timothy M. Griffin, and Lorin E. Olson. Stat1 modulates tissue wasting or overgrowth downstream from pdgfrβ. Genes & Development, 31:1666-1678, Aug 2017. URL: https://doi.org/10.1101/gad.300384.117, doi:10.1101/gad.300384.117. This article has 47 citations and is from a highest quality peer-reviewed journal.

21. (guerit2021pdgfreceptormutations pages 6-8): Emilie Guérit, Florence Arts, Guillaume Dachy, Boutaina Boulouadnine, and Jean-Baptiste Demoulin. Pdgf receptor mutations in human diseases. Cellular and Molecular Life Sciences, 78:3867-3881, Jan 2021. URL: https://doi.org/10.1007/s00018-020-03753-y, doi:10.1007/s00018-020-03753-y. This article has 154 citations and is from a domain leading peer-reviewed journal.

22. (wenger2020activatingvariantsin pages 16-16): Tara L. Wenger, Randall A. Bly, Natalie Wu, Catherine M. Albert, Julie Park, Joseph Shieh, Jirat Chenbhanich, Carrie L. Heike, Margaret P. Adam, Irene Chang, Angela Sun, Danny E. Miller, Anita E. Beck, Deepti Gupta, Markus D. Boos, Elaine H. Zackai, David Everman, Shireen Ganapathi, Meredith Wilson, John Christodoulou, Yuri A. Zarate, Cynthia Curry, Dong Li, Anne Guimier, Jeanne Amiel, Hakon Hakonarson, Richard Webster, Elizabeth J. Bhoj, Jonathan A. Perkins, John P. Dahl, and William B. Dobyns. Activating variants in pdgfrb result in a spectrum of disorders responsive to imatinib monotherapy. American Journal of Medical Genetics Part A, 182:1576-1591, Jun 2020. URL: https://doi.org/10.1002/ajmg.a.61615, doi:10.1002/ajmg.a.61615. This article has 37 citations.

23. (guerit2021pdgfreceptormutations pages 8-9): Emilie Guérit, Florence Arts, Guillaume Dachy, Boutaina Boulouadnine, and Jean-Baptiste Demoulin. Pdgf receptor mutations in human diseases. Cellular and Molecular Life Sciences, 78:3867-3881, Jan 2021. URL: https://doi.org/10.1007/s00018-020-03753-y, doi:10.1007/s00018-020-03753-y. This article has 154 citations and is from a domain leading peer-reviewed journal.

24. (prawitt2024molecularmechanismsof pages 1-2): Dirk Prawitt and Thomas Eggermann. Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges. Frontiers in Genetics, Jun 2024. URL: https://doi.org/10.3389/fgene.2024.1382371, doi:10.3389/fgene.2024.1382371. This article has 5 citations and is from a peer-reviewed journal.

25. (prawitt2024molecularmechanismsof pages 9-10): Dirk Prawitt and Thomas Eggermann. Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges. Frontiers in Genetics, Jun 2024. URL: https://doi.org/10.3389/fgene.2024.1382371, doi:10.3389/fgene.2024.1382371. This article has 5 citations and is from a peer-reviewed journal.

26. (kamien2018aclinicalreview pages 8-11): Benjamin Kamien, Anne Ronan, Gemma Poke, Ingrid Sinnerbrink, Gareth Baynam, Michelle Ward, William T. Gibson, Tracy Dudding-Byth, and Rodney J. Scott. A clinical review of generalized overgrowth syndromes in the era of massively parallel sequencing. Molecular Syndromology, 9:70-82, Jan 2018. URL: https://doi.org/10.1159/000484532, doi:10.1159/000484532. This article has 56 citations and is from a peer-reviewed journal.

27. (maurer2025knowingandtreating pages 4-5): A Maurer, L Mirakovska, A Foster, and K Kosaki. 'knowing and treating kosaki/penttinen syndrome'international collaborative consortium: recommendations for follow-up, natural history and a real-life observational …. Unknown journal, 2025.

28. (NCT05953857 chunk 1): Knowing and Treating Kosaki/Penttinen Syndromes. Centre Hospitalier Universitaire Dijon. 2023. ClinicalTrials.gov Identifier: NCT05953857

29. (maurer2025knowingandtreating pages 5-6): A Maurer, L Mirakovska, A Foster, and K Kosaki. 'knowing and treating kosaki/penttinen syndrome'international collaborative consortium: recommendations for follow-up, natural history and a real-life observational …. Unknown journal, 2025.