Schaaf–Yang Syndrome: Comprehensive Disease-Characteristics Report

Scope and evidence note. This report prioritizes peer-reviewed human evidence through 2024, especially Castilla‑Vallmanya et al. (published May 2023; DOI 10.1136/jmg-2022-108690), supplemented by recent reviews and animal studies. Because Schaaf–Yang syndrome (SYS) is exceptionally rare, much of the evidence comes from aggregated case series, retrospective cohorts, patient-derived fibroblasts, and model organisms rather than controlled trials. PMID values were not available in the retrieved records; DOI links are therefore supplied rather than risking incorrect PMID assignment.

Executive summary

SYS is a congenital, lifelong Mendelian neurodevelopmental disorder caused principally by a truncating variant affecting the paternally expressed MAGEL2 allele in the imprinted 15q11–q13 Prader–Willi region. Its characteristic combination is neonatal hypotonia and feeding/respiratory difficulty, developmental delay or intellectual disability, autism-related features, sleep and hypothalamic-endocrine abnormalities, and distal joint contractures or arthrogryposis. Although it overlaps Prader–Willi syndrome (PWS), severe intellectual disability, autism, and contractures are more characteristic of SYS, whereas classic PWS hyperphagia and obesity affect only a subset of people with SYS. More than 100 affected individuals had been reported by the 2023 synthesis, but population prevalence and incidence remain unknown. (castillavallmanya2023advancinginschaafyang pages 1-2, camerino2024thepivotalrole pages 3-5)

The leading mechanistic model is: paternal MAGEL2 truncation → impaired endosomal recycling and regulated neuropeptide secretion, plus possible toxic/neomorphic activity of stable nuclear truncated MAGEL2 → disrupted hypothalamic, neuronal, neuromuscular, and endocrine development → multisystem phenotype. No disease-modifying therapy is established; present care is multidisciplinary and symptom directed. Growth hormone replacement is used in selected deficient patients, while oxytocin remains experimental and is supported mainly by early-life animal studies. (castillavallmanya2023advancinginschaafyang pages 1-1, castillavallmanya2023advancinginschaafyang pages 7-8, schubert2025magel2(patho‐)physiologyand pages 10-11)

The following table provides a compact ontology-ready representation of the evidence.

Table: This table summarizes ontology-ready, evidence-backed facts for Schaaf-Yang syndrome across identifiers, mechanisms, phenotypes, diagnostics, management, and models. It is designed as a compact knowledge-base input with explicit evidence strength and clearly marked gaps.

1. Disease information

Definition and category. SYS is an imprinting-dependent, autosomal Mendelian neurodevelopmental syndrome associated with pathogenic variation in MAGEL2, one of the protein-coding genes in the PWS locus. It is not simply a PWS subtype: the disorders overlap mechanistically and phenotypically but have distinguishable clinical distributions. (castillavallmanya2023advancinginschaafyang pages 1-2)

Identifiers and names. Verified identifiers are OMIM 615547 and MONDO:0014243. Open Targets maps MONDO:0014243 to MAGEL2/ENSG00000254585. MAGEL2 itself is OMIM 605283. Common names are Schaaf–Yang syndrome, SYS, and MAGEL2-related Schaaf–Yang syndrome; older descriptions may use “Prader–Willi-like syndrome due to MAGEL2 mutation.” A dedicated ICD-10, ICD-11, or MeSH code was not established in the retrieved evidence; coding generally requires broader congenital-malformation, neurodevelopmental, or genetic-syndrome categories. (OpenTargets Search: Schaaf-Yang syndrome-MAGEL2, castillavallmanya2023advancinginschaafyang pages 1-2)

The evidence is predominantly aggregated disease-level literature—case series, compiled cohorts, reviews, and experimental studies—not an individual-patient EHR dataset. Individual case observations contribute to these aggregates. (castillavallmanya2023advancinginschaafyang pages 8-9)

2. Etiology, risk, and protective factors

The primary cause is a germline pathogenic variant on the paternal, transcriptionally active MAGEL2 allele. MAGEL2 is maternally imprinted; therefore, an identical variant on the normally silent maternal allele may not cause the classic phenotype. Most well-established SYS variants are nonsense or frameshift changes producing a truncated protein, often lacking the C-terminal MAGE homology domain. (castillavallmanya2023advancinginschaafyang pages 1-2, castillavallmanya2023advancinginschaafyang pages 1-1)

This is not an environmentally acquired, infectious, toxic, or lifestyle-mediated disease. The principal “risk factor” is inheritance or de-novo occurrence of a pathogenic variant on the paternal allele. No validated susceptibility loci, protective alleles, environmental protective factors, or gene–environment interactions are known. Environmental and medical circumstances can nevertheless modify complications—for example, aspiration, undernutrition, untreated sleep-disordered breathing, or endocrine deficiency—but do not cause SYS.

3. Phenotypes

Phenotypes begin predominantly prenatally or neonatally, are highly variable, and generally persist lifelong. Core suggested HPO annotations include neonatal hypotonia, feeding difficulty, global developmental delay, intellectual disability, autism, joint contracture, camptodactyly, arthrogryposis, sleep disturbance, short stature, hypogonadism, and temperature instability. (castillavallmanya2023advancinginschaafyang pages 1-2, castillavallmanya2023advancinginschaafyang pages 3-4)

Reported frequencies from compiled literature must be interpreted using their feature-specific denominators:

• Facial dysmorphism: 91.4% (64/70).
• Sleep disturbance: 100% (13/13); the denominator is small and likely clinically selected.
• Growth-hormone deficiency: 72.7% (16/22).
• Camptodactyly: approximately 50%.
• Hypogonadism: 50% (40/80).
• Hypoglycemia: 63.6%; temperature instability: 62.9%.
• Hypothyroidism: 29.6%; diabetes insipidus: 29.4%.
• Scoliosis: approximately 33% in a recent review synthesis. (camerino2024thepivotalrole pages 3-5, castillavallmanya2023advancinginschaafyang pages 3-4)

Neonatal hypotonia, weak suck/feeding difficulty, respiratory compromise, and contractures can be severe. Developmental delay and intellectual disability range from moderate to profound; expressive communication and adaptive independence are often substantially affected. Autism spectrum features and behavioral dysregulation are prominent. Sleep abnormalities, including sleep-disordered breathing, further affect daytime behavior and caregiver burden. (castillavallmanya2023advancinginschaafyang pages 1-2, schubert2025magel2(patho‐)physiologyand pages 10-11)

Endocrine/metabolic findings include short stature, low IGF‑1 or growth-hormone deficiency, hypogonadism, elevated fasting ghrelin, abnormal body composition, glucose intolerance/diabetes, and altered bone mineral density. Unlike classic PWS, only a minority develop marked hyperphagia and obesity, although high fat mass can occur despite a lower BMI. (camerino2024thepivotalrole pages 3-5, castillavallmanya2023advancinginschaafyang pages 7-8)

No robust SYS-specific EQ‑5D, SF‑36, or population-level utility estimates were recovered. Quality-of-life effects are inferred from chronic feeding and sleep problems, communication and intellectual disability, restricted mobility from contractures, behavioral symptoms, and intensive caregiver requirements; caregiver burden has been studied, but quantitative scores were unavailable in the retrieved full text. (schubert2025magel2(patho‐)physiologyand pages 10-11)

4. Genetic and molecular information

Gene: MAGEL2, encoding MAGE family member L2; Open Targets identifier ENSG00000254585. MAGEL2 is a single-exon gene encoding a 1,249-amino-acid protein with an N-terminal proline-rich region and C-terminal MAGE homology domain at approximately residues 1027–1195. (OpenTargets Search: Schaaf-Yang syndrome-MAGEL2, castillavallmanya2023advancinginschaafyang pages 1-2)

Variant interpretation. Established SYS variants are predominantly heterozygous germline nonsense or frameshift variants on the paternal allele. Their population frequency should generally be absent or extremely low in reference databases, but exact gnomAD frequencies must be checked variant by variant. Classification should follow ACMG/AMP criteria while explicitly incorporating phenotype, predicted truncation, functional evidence, segregation, and—critically—parental origin. A VUS or missense variant should not automatically be called SYS without compelling evidence. (castillavallmanya2023advancinginschaafyang pages 1-2, castillavallmanya2023advancinginschaafyang pages 1-1)

The disease mechanism is more complex than ordinary haploinsufficiency. Patient-derived experiments showed that truncated MAGEL2 is synthesized and stable and shifts from predominantly cytoplasmic wild-type localization to predominantly nuclear localization. This supports combined loss of normal endosomal/secretory function and a possible neomorphic or toxic truncated-protein effect. Mild phenotypes reported with complete regional deletions further support the possibility that absence and truncation are not biologically equivalent. (castillavallmanya2023advancinginschaafyang pages 1-1, castillavallmanya2023advancinginschaafyang pages 6-6)

No validated modifier genes, protective variants, founder variant, anticipation mechanism, or recurrent population-specific allele has been established. Larger 15q abnormalities involving MAGEL2, NDN, MKRN3, or the full PWS region can produce overlapping but non-identical disorders and should not automatically be labeled sequence-variant SYS. (castillavallmanya2023advancinginschaafyang pages 6-6)

5. Environmental information

No toxin, radiation exposure, pollution source, occupation, diet, smoking behavior, alcohol exposure, or infectious agent is known to initiate SYS. There is no zoonotic or transmissible component. Nutrition, airway care, infection prevention, physical activity, and sleep management are clinically important modifiers of morbidity rather than etiologic factors.

6. Mechanism and pathophysiology

MAGEL2 normally contributes to endosomal protein trafficking, retrograde transport, recycling, and neurosecretory function. Loss of normal function can impair the recycling or secretion machinery required by hypothalamic neurons. The downstream result is dysregulated secretion of neuropeptides and pituitary-regulating hormones governing feeding, growth, reproduction, sleep, temperature, stress responses, and social behavior. (castillavallmanya2023advancinginschaafyang pages 1-2, castillavallmanya2023advancinginschaafyang pages 7-8)

Patient-fibroblast evidence provides a second mechanism. In seven SYS fibroblast lines versus 11 controls, investigators found decreased secreted amyloid‑β1–40, decreased intracellular glutamine, and 132 differentially expressed genes, including increased HOTAIR. Truncated MAGEL2 remained stable and accumulated disproportionately in the nucleus. These findings make Aβ1–40 secretion and HOTAIR mRNA candidate biomarkers, but neither is a validated clinical diagnostic test. (castillavallmanya2023advancinginschaafyang pages 1-1)

The authors’ exact abstract conclusion was: “A truncated MAGEL2 protein is stable and localises mainly in the nucleus, where it might exert a pathogenic neomorphic effect.” They further stated that “Aβ1-40 secretion levels and HOTAIR mRNA levels might be promising biomarkers for SYS.” These are hypotheses supported by patient-derived in-vitro data, not yet prospective clinical biomarkers. (castillavallmanya2023advancinginschaafyang pages 1-1)

Animal evidence adds impaired neurite growth, delayed neuronal maturation, and reduced glutamatergic synapse markers. In Magel2-deficient mouse neurons, oxytocin reversed reduced neurite outgrowth, although it did not normalize every glutamatergic synaptic endpoint. Suggested GO annotations include endosomal transport, retrograde endosome-to-trans-Golgi transport, protein recycling, regulated exocytosis, peptide-hormone secretion, neuron development, neurite morphogenesis, synapse organization, and glutamatergic transmission. (schubert2025magel2(patho‐)physiologyand pages 10-11)

There is no established autoimmune, inflammatory, fibrotic, ischemic, or primary mitochondrial mechanism. No reproducible SYS-specific proteomic, lipidomic, single-cell, spatial-transcriptomic, CRISPR-screen, or integrated multi-omics signature has yet reached clinical validity.

7. Anatomical structures affected

The central nervous system—particularly hypothalamic circuitry—is primary. MAGEL2 expression is enriched in the brain, including the amygdala and hypothalamic suprachiasmatic, paraventricular, and supraoptic nuclei. Suggested UBERON concepts are brain, hypothalamus, amygdala, suprachiasmatic nucleus, paraventricular nucleus, supraoptic nucleus, pituitary gland, skeletal muscle, joint, and vertebral column. (castillavallmanya2023advancinginschaafyang pages 1-2)

Developmental expression in the hypothalamus, ventral diencephalon, and Rathke pouch supports hypothalamo-pituitary involvement. Secondary systems include skeletal muscle and peripheral joints, respiratory/upper-airway structures, gastrointestinal tract, endocrine organs, skeleton, and reproductive system. Candidate CL annotations are neuron, hypothalamic neuroendocrine cell, pituitary endocrine cell, skeletal muscle cell, and fibroblast—the last being an experimental rather than primary disease-target cell. (castillavallmanya2023advancinginschaafyang pages 1-2, castillavallmanya2023advancinginschaafyang pages 1-1)

Relevant subcellular compartments are endosomes, recycling endosomes, cytoplasm, nucleus, and secretory vesicles. No consistent lateralization is recognized.

8. Temporal development

Onset is congenital, often with prenatal reduced movement or contractures and neonatal hypotonia, weak feeding, and respiratory problems. The course is chronic and lifelong rather than relapsing-remitting. Developmental gains occur, but intellectual, communication, orthopedic, sleep, and endocrine needs commonly persist. (castillavallmanya2023advancinginschaafyang pages 1-2)

There is no validated staging system. Practical stages are neonatal stabilization; infancy/early-childhood feeding, motor, and communication intervention; school-age neurobehavioral, orthopedic, sleep, and endocrine surveillance; and adult support for chronic disability and metabolic complications. Early neural development may be a therapeutic critical period: model data suggest that oxytocin effects depend on timing, while CNS delivery becomes more difficult after blood–brain-barrier maturation. This remains a preclinical expert interpretation, not a human treatment window. (schubert2025magel2(patho‐)physiologyand pages 10-11, schubert2025magel2(patho‐)physiologyand pages 14-14)

9. Inheritance and population

Inheritance is best described as autosomal dominant with parent-of-origin-dependent expression. A pathogenic variant causes SYS when present on the active paternal allele. Many cases are de novo; familial transmission is possible, including clinically unaffected maternal carriers whose variant can become disease-causing when transmitted through a male in a later generation. Parental testing and phasing are consequently essential.

Penetrance for established paternal truncating variants appears high, but expressivity is markedly variable. Formal penetrance estimates, carrier frequency, germline-mosaicism rate, founder effects, consanguinity effects, ethnic enrichment, geographic variation, sex ratio, prevalence, and annual incidence are unknown. More than 100 patients had been reported by 2023, which is a literature count rather than an epidemiologic prevalence estimate. (castillavallmanya2023advancinginschaafyang pages 1-2)

10. Diagnostics

Diagnosis requires molecular confirmation; no biochemical, imaging, histologic, or electrophysiologic test is independently diagnostic.

1. Clinical suspicion: neonatal hypotonia/feeding or respiratory difficulty plus distal contractures or arthrogryposis, developmental delay/intellectual disability, autism features, short stature/endocrine abnormalities, and sleep disturbance.
2. Sequence testing: trio exome/genome, a neurodevelopmental/arthrogryposis/imprinting-disorder panel containing MAGEL2, or targeted MAGEL2 sequencing.
3. Parental-origin confirmation: parental sequencing and phasing should determine whether the variant is on the paternal allele.
4. Structural/imprinting assessment: chromosomal microarray may identify 15q copy-number changes but will miss most small truncating variants. PWS methylation testing is useful when PWS is suspected, but a normal PWS methylation result does not exclude sequence-level SYS. Karyotyping and FISH have low yield unless a large rearrangement is suspected.
5. Baseline phenotyping: feeding/swallow evaluation; polysomnography when indicated; endocrine tests including glucose, thyroid, IGF‑1/GH-axis and gonadal assessment; orthopedic examination; hearing/vision assessment; and developmental/autism evaluation. (castillavallmanya2023advancinginschaafyang pages 1-2, castillavallmanya2023advancinginschaafyang pages 3-4)

Main differentials include PWS, congenital myopathies, congenital hypopituitarism, L1CAM-related disease when hydrocephalus/spasticity is present, other arthrogryposis syndromes, and historically Opitz-C/PWS-like disorders. PWS is distinguished molecularly by loss of expression across the paternal PWS region and clinically by more typical later hyperphagia/obesity, small hands/feet, and characteristic facies; SYS more strongly features contractures and autism/severe ID. (castillavallmanya2023advancinginschaafyang pages 1-2, castillavallmanya2023advancinginschaafyang pages 8-9)

RNA-seq, metabolomics, Aβ1–40, HOTAIR, and glutamine remain research tools. Newborn or population carrier screening is not standard.

11. Outcome and prognosis

Reliable five- or ten-year survival rates, median life expectancy, and disease-specific mortality rates do not exist. A 2023 compiled analysis identified approximately 10–13 reported deaths in infancy or childhood, but publication bias and incomplete follow-up prevent estimation of risk. Severe neonatal respiratory disease, aspiration/feeding complications, gastrointestinal dysmotility or malrotation, sleep-disordered breathing, endocrine crises, and extreme obesity in occasional patients are plausible contributors. (castillavallmanya2023advancinginschaafyang pages 8-9, castillavallmanya2023advancinginschaafyang pages 3-4)

Long-term morbidity includes intellectual and adaptive disability, limited communication, autism-related behavior, mobility restriction from contractures/scoliosis, sleep problems, endocrine deficiency, altered body composition, and caregiver burden. Full recovery is not expected because the genetic neurodevelopmental disorder is lifelong, although feeding, motor function, communication, sleep, growth, and participation may improve with intervention. No validated prognostic biomarker or risk calculator exists.

12. Treatment and current applications

There is no approved disease-modifying or genotype-corrective treatment. Real-world management is individualized and multidisciplinary:

• Neonatal respiratory support, aspiration prevention, swallowing assessment, and enteral feeding when necessary.
• Physical therapy, stretching/splinting, occupational therapy, speech-language and augmentative communication interventions, and developmental/behavioral services.
• Polysomnography and treatment of obstructive or central sleep-disordered breathing.
• Endocrinology follow-up for growth, thyroid, glucose, adrenal/pituitary, puberty, gonadal function, and bone health.
• Orthopedic surveillance for contractures, hip or foot abnormalities, and scoliosis; surgery is phenotype-specific rather than syndrome-specific.
• Nutritional monitoring without assuming the classic PWS hyperphagia trajectory. (castillavallmanya2023advancinginschaafyang pages 1-2, castillavallmanya2023advancinginschaafyang pages 3-4)

Suggested MAXO terms include genetic counseling, feeding assistance, gastrostomy, respiratory support, polysomnography, physical therapy, occupational therapy, speech therapy, augmentative and alternative communication, growth-hormone replacement, endocrine monitoring, orthopedic surveillance, and scoliosis surgery.

Growth hormone. Growth-hormone deficiency is frequent, and retrospective/multiyear reports suggest improved linear growth and possible body-composition benefits in selected patients. However, SYS-specific controlled response rates and comprehensive long-term safety estimates are unavailable. Treatment should follow endocrine confirmation and include glucose, IGF‑1, scoliosis, and sleep/airway surveillance. (castillavallmanya2023advancinginschaafyang pages 3-4, castillavallmanya2023advancinginschaafyang pages 7-8, schubert2025magel2(patho‐)physiologyand pages 14-14)

Experimental therapy. Oxytocin can improve social or developmental phenotypes and neurite growth in Magel2-deficient models. Yet no human SYS efficacy has been established; developmental timing, dose, route, CNS penetration, and durability remain unresolved. No gene therapy, ASO, RNA therapy, CRISPR treatment, cell therapy, or immunotherapy is clinically available. The registry search retrieved no clearly relevant SYS-specific interventional trial, so no supported NCT identifier can be reported. (schubert2025magel2(patho‐)physiologyand pages 10-11, schubert2025magel2(patho‐)physiologyand pages 14-14)

13. Prevention

There is no lifestyle, vaccine, drug, or environmental intervention that prevents a de-novo MAGEL2 variant. Secondary prevention consists of early molecular diagnosis and prompt feeding, respiratory, developmental, sleep, endocrine, and orthopedic intervention. Tertiary prevention targets aspiration, malnutrition, sleep-related hypoxemia, avoidable contracture, scoliosis progression, diabetes, low bone density, and communication-related behavioral distress.

Genetic counseling should explain parent-of-origin effects, test both parents, consider parental mosaicism where appropriate, and discuss prenatal diagnosis or preimplantation genetic testing when the familial pathogenic variant and informative phase are known. Population newborn screening is not currently justified by an established screening assay or disease-modifying neonatal treatment.

14. Other species and natural disease

No validated naturally occurring veterinary counterpart of human SYS was identified. MAGEL2/Magel2 is evolutionarily conserved among mammals, but there is no evidence of breed-specific disease, zoonotic transmission, or cross-species infection. Mouse and rat phenotypes are engineered research models rather than naturally transmissible disease.

15. Model organisms

Mouse models with paternal Magel2 deficiency reproduce selected neonatal, social, thermoregulatory, neuronal, synaptic, and muscle abnormalities. Primary hippocampal neurons show reduced neurite outgrowth, while developing hippocampus shows delayed maturation and altered glutamatergic synapse markers. Early oxytocin can rescue some—but not all—outcomes. (schubert2025magel2(patho‐)physiologyand pages 10-11)

Rat truncation models more closely represent a truncated-protein genotype and show selected behavioral and physiological abnormalities. Their principal value is testing whether truncation differs from complete gene loss and enabling pharmacologic and longitudinal behavioral studies. (schubert2025magel2(patho‐)physiologyand pages 10-11)

Model limitations are substantial: species-specific imprinting and neurodevelopment, variable allele design, incomplete reproduction of severe human intellectual disability and contractures, and uncertain translation of neonatal oxytocin dosing. Patient-derived fibroblasts provide direct human molecular evidence but do not reproduce hypothalamic neuronal physiology. Patient iPSC-derived hypothalamic neurons or organoids, allele-specific models, and single-cell/spatial studies are important unmet research needs.

Current research priorities and expert assessment

The strongest 2023 advance was recognition that SYS may combine loss of normal MAGEL2 function with active pathology from a stable truncated protein, rather than representing simple MAGEL2 haploinsufficiency. The most important translational priorities are prospective natural-history registries, standardized phenotype and quality-of-life measures, variant- and parent-of-origin-resolved genotype–phenotype studies, validation of Aβ1–40/HOTAIR biomarkers, controlled growth-hormone studies, and carefully designed early-development neuropeptide trials. (castillavallmanya2023advancinginschaafyang pages 1-1, castillavallmanya2023advancinginschaafyang pages 6-6, schubert2025magel2(patho‐)physiologyand pages 14-14)

The evidence base remains constrained by small and overlapping cohorts. Feature percentages should therefore be stored with numerator/denominator and ascertainment metadata, not treated as definitive population frequencies. Likewise, candidate biomarkers and oxytocin should remain annotated as research findings, whereas molecular diagnosis, multidisciplinary surveillance, rehabilitation, respiratory/feeding support, and treatment of documented endocrine deficiencies represent current clinical practice.

References

1. (castillavallmanya2023advancinginschaafyang pages 1-2): Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A. G. Ranea, Pedro Seoane, Clara Oliva, Abraham J. Paredes-Fuentes, Rafael Artuch, Daniel Grinberg, Raquel Rabionet, Susanna Balcells, and Roser Urreizti. Advancing in schaaf-yang syndrome pathophysiology: from bedside to subcellular analyses of truncated magel2. Journal of Medical Genetics, 60:406-415, May 2023. URL: https://doi.org/10.1136/jmg-2022-108690, doi:10.1136/jmg-2022-108690. This article has 15 citations and is from a domain leading peer-reviewed journal.

2. (camerino2024thepivotalrole pages 3-5): Claudia Camerino. The pivotal role of oxytocin’s mechanism of thermoregulation in prader-willi syndrome, schaaf-yang syndrome, and autism spectrum disorder. International Journal of Molecular Sciences, 25:2066, Feb 2024. URL: https://doi.org/10.3390/ijms25042066, doi:10.3390/ijms25042066. This article has 8 citations.

3. (castillavallmanya2023advancinginschaafyang pages 1-1): Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A. G. Ranea, Pedro Seoane, Clara Oliva, Abraham J. Paredes-Fuentes, Rafael Artuch, Daniel Grinberg, Raquel Rabionet, Susanna Balcells, and Roser Urreizti. Advancing in schaaf-yang syndrome pathophysiology: from bedside to subcellular analyses of truncated magel2. Journal of Medical Genetics, 60:406-415, May 2023. URL: https://doi.org/10.1136/jmg-2022-108690, doi:10.1136/jmg-2022-108690. This article has 15 citations and is from a domain leading peer-reviewed journal.

4. (castillavallmanya2023advancinginschaafyang pages 7-8): Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A. G. Ranea, Pedro Seoane, Clara Oliva, Abraham J. Paredes-Fuentes, Rafael Artuch, Daniel Grinberg, Raquel Rabionet, Susanna Balcells, and Roser Urreizti. Advancing in schaaf-yang syndrome pathophysiology: from bedside to subcellular analyses of truncated magel2. Journal of Medical Genetics, 60:406-415, May 2023. URL: https://doi.org/10.1136/jmg-2022-108690, doi:10.1136/jmg-2022-108690. This article has 15 citations and is from a domain leading peer-reviewed journal.

5. (schubert2025magel2(patho‐)physiologyand pages 10-11): Tim Schubert and Christian P. Schaaf. Magel2 (patho‐)physiology and schaaf–yang syndrome. Developmental Medicine and Child Neurology, 67:35-48, Jul 2025. URL: https://doi.org/10.1111/dmcn.16018, doi:10.1111/dmcn.16018. This article has 28 citations and is from a highest quality peer-reviewed journal.

6. (OpenTargets Search: Schaaf-Yang syndrome-MAGEL2): Open Targets Query (Schaaf-Yang syndrome-MAGEL2, 1 results). Buniello, A. et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research.

7. (castillavallmanya2023advancinginschaafyang pages 6-6): Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A. G. Ranea, Pedro Seoane, Clara Oliva, Abraham J. Paredes-Fuentes, Rafael Artuch, Daniel Grinberg, Raquel Rabionet, Susanna Balcells, and Roser Urreizti. Advancing in schaaf-yang syndrome pathophysiology: from bedside to subcellular analyses of truncated magel2. Journal of Medical Genetics, 60:406-415, May 2023. URL: https://doi.org/10.1136/jmg-2022-108690, doi:10.1136/jmg-2022-108690. This article has 15 citations and is from a domain leading peer-reviewed journal.

8. (castillavallmanya2023advancinginschaafyang pages 8-9): Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A. G. Ranea, Pedro Seoane, Clara Oliva, Abraham J. Paredes-Fuentes, Rafael Artuch, Daniel Grinberg, Raquel Rabionet, Susanna Balcells, and Roser Urreizti. Advancing in schaaf-yang syndrome pathophysiology: from bedside to subcellular analyses of truncated magel2. Journal of Medical Genetics, 60:406-415, May 2023. URL: https://doi.org/10.1136/jmg-2022-108690, doi:10.1136/jmg-2022-108690. This article has 15 citations and is from a domain leading peer-reviewed journal.

9. (castillavallmanya2023advancinginschaafyang pages 3-4): Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A. G. Ranea, Pedro Seoane, Clara Oliva, Abraham J. Paredes-Fuentes, Rafael Artuch, Daniel Grinberg, Raquel Rabionet, Susanna Balcells, and Roser Urreizti. Advancing in schaaf-yang syndrome pathophysiology: from bedside to subcellular analyses of truncated magel2. Journal of Medical Genetics, 60:406-415, May 2023. URL: https://doi.org/10.1136/jmg-2022-108690, doi:10.1136/jmg-2022-108690. This article has 15 citations and is from a domain leading peer-reviewed journal.

10. (schubert2025magel2(patho‐)physiologyand pages 14-14): Tim Schubert and Christian P. Schaaf. Magel2 (patho‐)physiology and schaaf–yang syndrome. Developmental Medicine and Child Neurology, 67:35-48, Jul 2025. URL: https://doi.org/10.1111/dmcn.16018, doi:10.1111/dmcn.16018. This article has 28 citations and is from a highest quality peer-reviewed journal.

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