Fibrochondrogenesis

1. Disease Information

1.1 Overview (what is the disease?)

Fibrochondrogenesis is a severe short-limbed skeletal dysplasia that classically presents prenatally with characteristic craniofacial, thoracic, and radiographic findings and is frequently perinatally lethal due to thoracic insufficiency/respiratory compromise (tompson2010fibrochondrogenesisresultsfrom pages 1-2, tompson2012dominantandrecessive pages 1-3). In the landmark genetic study, Tompson et al. describe it as “a severe, autosomal-recessive, short-limbed skeletal dysplasia” and provide detailed clinical-radiographic-pathologic characterization (tompson2010fibrochondrogenesisresultsfrom pages 1-2).

1.2 Key identifiers (OMIM/Orphanet/ICD/MeSH/MONDO)

• OMIM/MIM: 228520 (“Fibrochondrogenesis (MIM 228520)”) (tompson2010fibrochondrogenesisresultsfrom pages 1-2)
• Orphanet, ICD-10/ICD-11, MeSH, MONDO: Not present in the retrieved full-text excerpts (tompson2010fibrochondrogenesisresultsfrom pages 5-5, jeon2024anovelcompound pages 1-3).

1.3 Synonyms / alternative names in retrieved sources

• Fibrochondrogenesis type 1 / FBCG1 (jeon2024anovelcompound pages 1-3)

1.4 Evidence source types

The retrieved evidence is largely from: - Human clinical genetics and fetal/neonatal radiology/pathology (case reports and molecular studies) (tompson2010fibrochondrogenesisresultsfrom pages 1-2, jeon2024anovelcompound pages 1-3, tompson2012dominantandrecessive pages 1-3) - Aggregated radiology review (type II and type XI collagenopathies) (handa2021radiologicfeaturesof pages 11-14) - Model organism studies (zebrafish and mouse) supporting mechanism (lawrence2018themechanicalimpact pages 1-2, reeck2022theshapeof pages 9-11, hafez2015col11a1regulatesbone pages 1-3)

A compact identifiers/nomenclature summary is provided here:

Table: This table summarizes the disease names, synonyms, OMIM/MIM identifiers, inheritance patterns, and causal genes for fibrochondrogenesis using only the retrieved evidence. It also flags which standard identifiers were not found in the available source excerpts.

2. Etiology

2.1 Disease causal factors

Fibrochondrogenesis is primarily a genetic disorder caused by pathogenic variants affecting type XI collagen: - COL11A1: established disease locus for classic autosomal recessive fibrochondrogenesis (tompson2010fibrochondrogenesisresultsfrom pages 1-2) - COL11A2: identified as a second locus, with both recessive and de novo dominant fibrochondrogenesis reported (tompson2012dominantandrecessive pages 1-3, tompson2012dominantandrecessive pages 4-6)

Key primary-literature abstract quote (genetic causality)

Tompson et al. (2010) report: “Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene” and note affected individuals were compound heterozygotes for a loss-of-function allele and a glycine-substitution triple-helical allele (tompson2010fibrochondrogenesisresultsfrom pages 1-2).

2.2 Risk factors

• Genetic risk factor: biallelic pathogenic variants in COL11A1 (AR) (tompson2010fibrochondrogenesisresultsfrom pages 1-2, jeon2024anovelcompound pages 1-3).
• Consanguinity/autozygosity: a case had “unknown ancestral consanguinity” inferred from autozygous regions by SNP genotyping (tompson2010fibrochondrogenesisresultsfrom pages 1-2).

Environmental/lifestyle risk factors are not established in the retrieved sources.

2.3 Protective factors / gene–environment interactions

No protective factors or gene–environment interactions were identified in the retrieved evidence for fibrochondrogenesis.

3. Phenotypes

3.1 Core clinical and radiographic phenotype (current understanding)

Tompson et al. describe the classic phenotype including: - Craniofacial: flat midface, small nose, anteverted nares (tompson2010fibrochondrogenesisresultsfrom pages 1-2) - Limbs: significant shortening of all limb segments with relatively normal hands/feet (tompson2010fibrochondrogenesisresultsfrom pages 1-2) - Thorax: small bell-shaped thorax (tompson2010fibrochondrogenesisresultsfrom pages 1-2) - Radiographs: short long bones with broad metaphyseal ends (“dumb-bell shape”), short ribs with metaphyseal cupping, and flat vertebral bodies with “pinched” appearance (hypoplastic posterior end; rounded anterior end) (tompson2010fibrochondrogenesisresultsfrom pages 1-2) - Histopathology: growth plate with fibroblastic chondrocytes and fibrous cartilage extracellular matrix; collagen fibrils appear “frayed and irregular” on EM (tompson2010fibrochondrogenesisresultsfrom pages 1-2, jeon2024anovelcompound pages 1-3)

The 2024 Korean survivor case (COL11A1 compound heterozygote) highlights that phenotypic severity can vary by genotype and can include short stature and dysmorphism with survivorship into childhood (jeon2024anovelcompound pages 1-3).

3.2 Phenotype ontology mapping (HPO) and anatomical structures (UBERON)

A structured mapping of major features to suggested HPO and UBERON terms is provided here:

Table: This table maps major clinical, radiographic, and histopathologic features reported for fibrochondrogenesis to suggested HPO and anatomic UBERON terms. It is designed to support structured disease knowledge-base curation and phenotype annotation from the cited source contexts.

3.3 Quality-of-life impact

Direct quality-of-life instrument data (e.g., EQ-5D/SF-36) were not identified in retrieved texts. However, for survivors, the condition can involve chronic skeletal dysplasia with potential ophthalmic and auditory complications requiring ongoing surveillance (jeon2024anovelcompound pages 1-3).

4. Genetic / Molecular Information

4.1 Causal genes

• COL11A1 (type XI collagen α1 chain) is a key causal gene; Tompson et al. identify COL11A1 as the cartilage-selective candidate and report compound heterozygous pathogenic variants (tompson2010fibrochondrogenesisresultsfrom pages 1-2).
• COL11A2 (type XI collagen α2 chain) is a second locus; Tompson et al. report both recessive and dominant fibrochondrogenesis due to COL11A2 variants (tompson2012dominantandrecessive pages 1-3, tompson2012dominantandrecessive pages 4-6).

4.2 Pathogenic variants (representative examples from retrieved sources)

A structured gene/variant table is provided here:

Table: This table summarizes causal genes and representative pathogenic variants reported for fibrochondrogenesis in the retrieved sources, including inheritance pattern, variant class, and the evidence context. It is useful for quickly mapping the molecular heterogeneity of COL11A1- and COL11A2-related fibrochondrogenesis.

Key 2023–2024 update (prioritized): - 2024 (Jeon et al.) report a Korean case of FBCG1 with compound heterozygous COL11A1 missense variants c.3478C>G (p.Pro1160Ala) (novel; absent from gnomAD v2.1.1/v3 in the report; REVEL 0.649) and c.2771C>T (p.Pro924Leu), with segregation demonstrating the variants are in trans (jeon2024anovelcompound pages 1-3).

4.3 Variant functional consequences (high-level)

The primary mechanism is extracellular matrix (ECM) structural failure from impaired type XI collagen, affecting cartilage collagen fibril organization and downstream endochondral skeletal development (tompson2012dominantandrecessive pages 4-6, lawrence2018themechanicalimpact pages 1-2).

4.4 Modifier genes / epigenetics / chromosomal abnormalities

No modifier genes, epigenetic signatures, or recurrent chromosomal abnormalities specific to fibrochondrogenesis were identified in the retrieved sources.

5. Environmental Information

No specific environmental, lifestyle, or infectious contributors were identified in the retrieved evidence; fibrochondrogenesis is treated as a primarily genetic disorder in these sources (tompson2010fibrochondrogenesisresultsfrom pages 1-2, tompson2012dominantandrecessive pages 1-3).

6. Mechanism / Pathophysiology

6.1 Current mechanistic model (genotype → phenotype causal chain)

Evidence across human pathology and animal models supports: 1) COL11A1/COL11A2 variants disrupt type XI collagen in cartilage (tompson2010fibrochondrogenesisresultsfrom pages 1-2, tompson2012dominantandrecessive pages 4-6). 2) Disruption of type XI collagen destabilizes the collagen network; in zebrafish col11a2 mutants, type II collagen is made but prematurely degraded in maturing cartilage (lawrence2018themechanicalimpact pages 1-2). 3) The abnormal ECM is linked to altered chondrocyte organization and tissue-level biomechanics; zebrafish mutants show altered joint morphology and increased stiffness measured by AFM (lawrence2018themechanicalimpact pages 1-2). 4) These disruptions manifest as the characteristic fetal skeletal dysplasia pattern (short, flared long bones; platyspondyly; small thorax), often with perinatal respiratory compromise (tompson2010fibrochondrogenesisresultsfrom pages 1-2, tompson2012dominantandrecessive pages 1-3).

Direct abstract quotes supporting mechanism (model organism)

• Lawrence et al. (2018) state: “in col11a2 mutants, type II collagen is made but is prematurely degraded in maturing cartilage” and that these changes correlate with increased stiffness of bone and cartilage (lawrence2018themechanicalimpact pages 1-2).

6.2 Ontology suggestions (GO, CL)

A structured mechanism table with suggested GO biological process and CL cell type terms is provided here:

Table: This table summarizes the main mechanistic links from COL11A1/COL11A2 variation to cartilage matrix dysfunction, abnormal skeletal morphogenesis, and organ-level phenotypes in fibrochondrogenesis and related type XI collagenopathies. It integrates human pathology/genetics with zebrafish and mouse model evidence and suggests ontology terms useful for structured annotation.

7. Anatomical Structures Affected

Primary affected systems are the skeletal system (appendicular and axial skeleton) and cartilage growth plates, with frequent involvement of the thoracic cage and vertebral bodies (tompson2010fibrochondrogenesisresultsfrom pages 1-2, handa2021radiologicfeaturesof pages 11-14). The phenotypic mapping table provides suggested UBERON terms for major sites (artifact-02).

8. Temporal Development

• Onset: typically prenatal, with suspicion often beginning when limb shortening is seen on screening ultrasound (nishimura2023prenataldiagnosisof pages 1-2, tompson2010fibrochondrogenesisresultsfrom pages 1-2).
• Course: severe cases are often perinatal lethal; survivorship into childhood is possible in milder genotypes (e.g., 2024 case) (jeon2024anovelcompound pages 1-3).

Formal staging systems are not described in the retrieved sources.

9. Inheritance and Population

9.1 Inheritance

• Classic fibrochondrogenesis/FBCG1 is autosomal recessive with biallelic COL11A1 variants (tompson2010fibrochondrogenesisresultsfrom pages 1-2, jeon2024anovelcompound pages 1-3).
• COL11A2 can cause recessive disease (splice-associated in-frame deletion) and also autosomal dominant fibrochondrogenesis via de novo in-frame deletion; counseling should consider parental germline mosaicism (tompson2012dominantandrecessive pages 4-6).

9.2 Epidemiology and rarity

Quantitative population incidence/prevalence specifically for fibrochondrogenesis is sparse in the retrieved texts. Available estimates include: - Tompson et al. (2012) suggest: “perhaps less than 1 in 1,000,000 births in outbred populations,” implying a carrier frequency of ~1 in 500 under Hardy–Weinberg assumptions (tompson2012dominantandrecessive pages 4-6). - Jeon et al. (2024) note: “About 22 cases have been reported worldwide” (case-report-based count) (jeon2024anovelcompound pages 1-3).

For context on skeletal dysplasias more broadly (not fibrochondrogenesis-specific): - Nishimura et al. (2023) report prenatal bone dysplasias have prevalence 2.1–2.4 per 10,000, and lethal bone dysplasias about 1.1 per 10,000, contributing about 1 out of 100 perinatal deaths (nishimura2023prenataldiagnosisof pages 1-2).

9.3 Risk/protective factors beyond genetics

No environmental or lifestyle risk modifiers were established for fibrochondrogenesis in the retrieved evidence.

10. Diagnostics

10.1 Imaging and diagnostic workflow

A current, real-world prenatal skeletal dysplasia workflow emphasizes that: - Limb shortening on screening ultrasound prompts more detailed evaluation. - Additional imaging (detailed US, MRI, CT) can refine diagnosis. - Imaging remains critical because genetic testing identifies variants but not necessarily pathogenicity without phenotypic correlation (nishimura2023prenataldiagnosisof pages 1-2).

Radiographic hallmarks specific to fibrochondrogenesis include dumbbell long bones with metaphyseal widening, platyspondyly and distinctive vertebral body changes, rib cupping, and severe thoracic narrowing in lethal cases (tompson2010fibrochondrogenesisresultsfrom pages 1-2, tompson2012dominantandrecessive pages 4-6, handa2021radiologicfeaturesof pages 11-14).

10.2 Genetic testing

Demonstrated approaches include: - Targeted sequencing of all coding exons/splice junctions in COL11A1 (Tompson et al.) (tompson2010fibrochondrogenesisresultsfrom pages 1-2) - Whole-exome sequencing with parental segregation testing (Jeon et al. 2024) (jeon2024anovelcompound pages 1-3) - SNP genotyping for autozygosity mapping in recessive suspicion (tompson2010fibrochondrogenesisresultsfrom pages 1-2)

10.3 Pathology

The diagnosis is supported by characteristic cartilage histology (“fibroblastic” chondrocytes; fibrous matrix) and EM findings (frayed collagen fibrils) (tompson2010fibrochondrogenesisresultsfrom pages 1-2).

10.4 Differential diagnosis

Fibrochondrogenesis overlaps with other collagenopathies (e.g., Kniest dysplasia) but can be distinguished by severity and vertebral changes (e.g., multilevel coronal clefts and dorsally wedged vertebral bodies in type XI collagenopathies) (handa2021radiologicfeaturesof pages 11-14).

A structured diagnostics/management summary is provided here:

Table: This table summarizes how fibrochondrogenesis is recognized and confirmed in practice, from prenatal suspicion through imaging, genetics, and pathology. It also condenses the limited current management evidence, highlighting that care is mainly supportive and surveillance-based, with only sparse anecdotal treatment data.

11. Outcome / Prognosis

Most cases are described as perinatal lethal or variably fatal with lethality linked to thoracic hypoplasia/respiratory compromise (tompson2012dominantandrecessive pages 1-3, handa2021radiologicfeaturesof pages 11-14). Quantitative survival rates (e.g., 1-year survival) were not available in the retrieved excerpts.

Survivors can have persistent skeletal dysplasia with potential ophthalmic/audiologic complications, illustrated by the 2024 survivor case under ongoing surveillance (jeon2024anovelcompound pages 1-3).

12. Treatment

12.1 Standard of care

No disease-modifying therapy was identified in the retrieved evidence. The 2024 case report explicitly states: “there is no specific treatment for FBCG1” (jeon2024anovelcompound pages 1-3).

12.2 Supportive care and surveillance

After genetic diagnosis, surveillance for ophthalmic and hearing complications is emphasized (jeon2024anovelcompound pages 1-3).

12.3 Growth hormone (limited evidence)

Jeon et al. cite a small prior report that “treatment of three cases with COL11A1 mutations with growth hormone was effective,” increasing growth velocity to 9.1 cm/year and improving height by +1.5 SDS in the first year (jeon2024anovelcompound pages 1-3). This is anecdotal/case-based and not supported by trial evidence in the retrieved material.

12.4 Clinical trials

A clinical-trial search did not retrieve fibrochondrogenesis-specific interventional trials in the current tool run (no relevant NCT evidence in context).

MAXO suggestions (supportive, not evidence-validated here): genetic counseling; prenatal diagnostic imaging; molecular genetic testing; audiologic evaluation; ophthalmologic surveillance (supported conceptually by sources but not encoded as MAXO IDs in retrieved texts).

13. Prevention

Because fibrochondrogenesis is genetic, prevention is primarily via reproductive/genetic counseling: - Carrier testing and family studies after molecular diagnosis (jeon2024anovelcompound pages 1-3) - Prenatal diagnosis using imaging plus molecular testing where appropriate (nishimura2023prenataldiagnosisof pages 1-2) - Counseling must consider autosomal recessive recurrence risk for COL11A1-related disease and also the possibility of parental germline mosaicism in dominant COL11A2-related cases (tompson2012dominantandrecessive pages 4-6).

14. Other Species / Natural Disease

No naturally occurring fibrochondrogenesis in non-human species was identified in the retrieved evidence.

15. Model Organisms

Evidence supports multiple models relevant to type XI collagenopathy mechanisms: - Zebrafish col11a2 mutants: cartilage matrix defects, type II collagen premature degradation, altered stiffness, and joint pathology (lawrence2018themechanicalimpact pages 1-2). - Zebrafish col11a1a knockdown/LOF: disrupted Meckel’s cartilage organization and mineralization (reeck2022theshapeof pages 9-11). - Mouse Col11a1 deficiency (cho/Col11a1−/−): defects in chondrogenesis and vertebral body formation and altered bone microarchitecture (hafez2015col11a1regulatesbone pages 1-3).

Real-world implementation snapshot (applications)

• Prenatal care: screening ultrasound identifies limb shortening; expert fetal imaging (US/MRI/CT) and multidisciplinary interpretation guide prognosis and decisions; imaging-genetics correlation is critical because variant pathogenicity is not guaranteed by sequence alone (nishimura2023prenataldiagnosisof pages 1-2).
• Clinical genetics: WES and segregation analysis are used in contemporary practice to resolve diagnoses in atypical/surviving cases and to reclassify novel variants (jeon2024anovelcompound pages 1-3).

Key visual evidence

Radiographs from Tompson et al. (2010) show the classic fetal radiographic appearance (short long bones with broad metaphyses; rib and vertebral abnormalities) (tompson2010fibrochondrogenesisresultsfrom media 1bd9e7f7).

Evidence gaps / limitations (important for knowledge-base curation)

• No Orphanet/ICD/MeSH/MONDO identifiers were available in the retrieved full-text excerpts; these should be added by direct lookup in the respective databases.
• No robust survival statistics, standardized diagnostic criteria statements (ICD/consensus criteria), or QoL instrument outcomes were found in the retrieved excerpts.
• Environmental risk factors, protective factors, and GxE interactions were not supported in this evidence set.

URLs and publication dates (most relevant, prioritized recent)

• Jeon et al. Apr 2024. Ann Pediatr Endocrinol Metab. “A novel compound heterozygous variant of the COL11A1 gene…” https://doi.org/10.6065/apem.2346150.075 (jeon2024anovelcompound pages 1-3)
• Nishimura et al. Jul 2023. Br J Radiol. “Prenatal diagnosis of bone dysplasias.” https://doi.org/10.1259/bjr.20221025 (nishimura2023prenataldiagnosisof pages 1-2)
• Rebello et al. Jul 2023. Hum Mol Genet. “COL11A2 as a candidate gene for vertebral malformations…” https://doi.org/10.1093/hmg/ddad117 (rebello2023col11a2asa pages 1-2)
• Handa et al. Jan 2021. RadioGraphics. “Radiologic features of type II and type XI collagenopathies.” https://doi.org/10.1148/rg.2021200075 (handa2021radiologicfeaturesof pages 11-14)
• Tompson et al. Feb 2012. Am J Med Genet A. “Dominant and recessive forms of fibrochondrogenesis…” https://doi.org/10.1002/ajmg.a.34406 (tompson2012dominantandrecessive pages 1-3)
• Tompson et al. Nov 2010. Am J Hum Genet. “Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.” https://doi.org/10.1016/j.ajhg.2010.10.009 (tompson2010fibrochondrogenesisresultsfrom pages 1-2)
• Lawrence et al. Sep 2018. Phil Trans R Soc B. “The mechanical impact of col11a2 loss on joints…” https://doi.org/10.1098/rstb.2017.0335 (lawrence2018themechanicalimpact pages 1-2)

Appendix: quick-reference tables

(Embedded above) - Disease identifiers/nomenclature: artifact-00 - Causal genes and representative variants: artifact-01 - Phenotype → HPO/UBERON mapping: artifact-02 - Diagnostics & management: artifact-03 - Mechanisms with GO/CL suggestions: artifact-04

References

1. (tompson2010fibrochondrogenesisresultsfrom pages 1-2): Stuart W. Tompson, Carlos A. Bacino, Nicole P. Safina, Michael B. Bober, Virginia K. Proud, Tara Funari, Michael F. Wangler, Lisette Nevarez, Leena Ala-Kokko, William R. Wilcox, David R. Eyre, Deborah Krakow, and Daniel H. Cohn. Fibrochondrogenesis results from mutations in the col11a1 type xi collagen gene. American journal of human genetics, 87 5:708-12, Nov 2010. URL: https://doi.org/10.1016/j.ajhg.2010.10.009, doi:10.1016/j.ajhg.2010.10.009. This article has 96 citations and is from a highest quality peer-reviewed journal.

2. (tompson2012dominantandrecessive pages 1-3): Stuart W. Tompson, Eissa Ali Faqeih, Leena Ala‐Kokko, Jacqueline T. Hecht, Rika Miki, Tara Funari, Vincent A. Funari, Lisette Nevarez, Deborah Krakow, and Daniel H. Cohn. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, col11a2. American Journal of Medical Genetics Part A, 158A:309-314, Feb 2012. URL: https://doi.org/10.1002/ajmg.a.34406, doi:10.1002/ajmg.a.34406. This article has 23 citations.

3. (tompson2010fibrochondrogenesisresultsfrom pages 5-5): Stuart W. Tompson, Carlos A. Bacino, Nicole P. Safina, Michael B. Bober, Virginia K. Proud, Tara Funari, Michael F. Wangler, Lisette Nevarez, Leena Ala-Kokko, William R. Wilcox, David R. Eyre, Deborah Krakow, and Daniel H. Cohn. Fibrochondrogenesis results from mutations in the col11a1 type xi collagen gene. American journal of human genetics, 87 5:708-12, Nov 2010. URL: https://doi.org/10.1016/j.ajhg.2010.10.009, doi:10.1016/j.ajhg.2010.10.009. This article has 96 citations and is from a highest quality peer-reviewed journal.

4. (jeon2024anovelcompound pages 1-3): Jaesung Jeon, Minji Kim, Sukdong Yoo, Yoomi Kim, and Chong Kun Cheon. A novel compound heterozygous variant of the col11a1 gene in a patient with fibrochondrogenesis type i: the first case in korea. Annals of Pediatric Endocrinology & Metabolism, 29:135-137, Apr 2024. URL: https://doi.org/10.6065/apem.2346150.075, doi:10.6065/apem.2346150.075. This article has 0 citations.

5. (handa2021radiologicfeaturesof pages 11-14): Atsuhiko Handa, Giedre Grigelioniene, and Gen Nishimura. Radiologic features of type ii and type xi collagenopathies. RadioGraphics, 41:192-209, Jan 2021. URL: https://doi.org/10.1148/rg.2021200075, doi:10.1148/rg.2021200075. This article has 20 citations and is from a domain leading peer-reviewed journal.

6. (lawrence2018themechanicalimpact pages 1-2): Elizabeth A. Lawrence, Erika Kague, Jessye A. Aggleton, Robert L. Harniman, Karen A. Roddy, and Chrissy L. Hammond. The mechanical impact of col11a2 loss on joints; col11a2 mutant zebrafish show changes to joint development and function, which leads to early-onset osteoarthritis. Philosophical Transactions of the Royal Society B: Biological Sciences, 373:20170335, Sep 2018. URL: https://doi.org/10.1098/rstb.2017.0335, doi:10.1098/rstb.2017.0335. This article has 73 citations and is from a domain leading peer-reviewed journal.

7. (reeck2022theshapeof pages 9-11): Jonathon C. Reeck and Julia Thom Oxford. The shape of the jaw—zebrafish col11a1a regulates meckel’s cartilage morphogenesis and mineralization. Journal of Developmental Biology, 10:40, Sep 2022. URL: https://doi.org/10.3390/jdb10040040, doi:10.3390/jdb10040040. This article has 12 citations.

8. (hafez2015col11a1regulatesbone pages 1-3): Anthony Hafez, Ryan Squires, Amber Pedracini, Alark Joshi, Robert Seegmiller, and Julia Oxford. Col11a1 regulates bone microarchitecture during embryonic development. Journal of developmental biology, 3:158-176, Dec 2015. URL: https://doi.org/10.3390/jdb3040158, doi:10.3390/jdb3040158. This article has 49 citations.

9. (tompson2012dominantandrecessive pages 4-6): Stuart W. Tompson, Eissa Ali Faqeih, Leena Ala‐Kokko, Jacqueline T. Hecht, Rika Miki, Tara Funari, Vincent A. Funari, Lisette Nevarez, Deborah Krakow, and Daniel H. Cohn. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, col11a2. American Journal of Medical Genetics Part A, 158A:309-314, Feb 2012. URL: https://doi.org/10.1002/ajmg.a.34406, doi:10.1002/ajmg.a.34406. This article has 23 citations.

10. (tompson2012dominantandrecessive pages 12-13): Stuart W. Tompson, Eissa Ali Faqeih, Leena Ala‐Kokko, Jacqueline T. Hecht, Rika Miki, Tara Funari, Vincent A. Funari, Lisette Nevarez, Deborah Krakow, and Daniel H. Cohn. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, col11a2. American Journal of Medical Genetics Part A, 158A:309-314, Feb 2012. URL: https://doi.org/10.1002/ajmg.a.34406, doi:10.1002/ajmg.a.34406. This article has 23 citations.

11. (tompson2012dominantandrecessive pages 7-12): Stuart W. Tompson, Eissa Ali Faqeih, Leena Ala‐Kokko, Jacqueline T. Hecht, Rika Miki, Tara Funari, Vincent A. Funari, Lisette Nevarez, Deborah Krakow, and Daniel H. Cohn. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, col11a2. American Journal of Medical Genetics Part A, 158A:309-314, Feb 2012. URL: https://doi.org/10.1002/ajmg.a.34406, doi:10.1002/ajmg.a.34406. This article has 23 citations.

12. (handa2021radiologicfeaturesof pages 16-17): Atsuhiko Handa, Giedre Grigelioniene, and Gen Nishimura. Radiologic features of type ii and type xi collagenopathies. RadioGraphics, 41:192-209, Jan 2021. URL: https://doi.org/10.1148/rg.2021200075, doi:10.1148/rg.2021200075. This article has 20 citations and is from a domain leading peer-reviewed journal.

13. (rebello2023col11a2asa pages 1-2): Denise Rebello, Elizabeth Wohler, Vida Erfani, Guozhuang Li, Alexya N Aguilera, Alberto Santiago-Cornier, Sen Zhao, Steven W Hwang, Robert D Steiner, Terry Jianguo Zhang, Christina A Gurnett, Cathleen Raggio, Nan Wu, Nara Sobreira, Philip F Giampietro, and Brian Ciruna. Col11a2 as a candidate gene for vertebral malformations and congenital scoliosis. Human molecular genetics, 32:2913-2928, Jul 2023. URL: https://doi.org/10.1093/hmg/ddad117, doi:10.1093/hmg/ddad117. This article has 19 citations and is from a domain leading peer-reviewed journal.

14. (reeck2022theshapeof pages 11-13): Jonathon C. Reeck and Julia Thom Oxford. The shape of the jaw—zebrafish col11a1a regulates meckel’s cartilage morphogenesis and mineralization. Journal of Developmental Biology, 10:40, Sep 2022. URL: https://doi.org/10.3390/jdb10040040, doi:10.3390/jdb10040040. This article has 12 citations.

15. (hall2024fetalandperinatal pages 61-63): Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Gen Nishimura, and Valerie Cormier-Daire. Fetal and perinatal skeletal dysplasias. ArXiv, Mar 2024. URL: https://doi.org/10.1201/9781003166948, doi:10.1201/9781003166948. This article has 26 citations.

16. (lawrence2018themechanicalimpact pages 12-12): Elizabeth A. Lawrence, Erika Kague, Jessye A. Aggleton, Robert L. Harniman, Karen A. Roddy, and Chrissy L. Hammond. The mechanical impact of col11a2 loss on joints; col11a2 mutant zebrafish show changes to joint development and function, which leads to early-onset osteoarthritis. Philosophical Transactions of the Royal Society B: Biological Sciences, 373:20170335, Sep 2018. URL: https://doi.org/10.1098/rstb.2017.0335, doi:10.1098/rstb.2017.0335. This article has 73 citations and is from a domain leading peer-reviewed journal.

17. (reeck2017theroleof pages 40-45): Jonathon Charles Reeck. The role of col11a1 expression during cartilage development. ArXiv, 2017. URL: https://doi.org/10.18122/b2dq43, doi:10.18122/b2dq43. This article has 1 citations.

18. (nishimura2023prenataldiagnosisof pages 1-2): Gen Nishimura, Atsuhiko Handa, Osamu Miyazaki, Yuko Tsujioka, Jun Murotsuki, Hideaki Sawai, Takahiro Yamada, Yutaka Kozuma, Yuichiro Takahashi, Katsunori Ozawa, Ritusuko Pooh, and Masakatsu Sase. Prenatal diagnosis of bone dysplasias. The British journal of radiology, 96 1147:20221025, Jul 2023. URL: https://doi.org/10.1259/bjr.20221025, doi:10.1259/bjr.20221025. This article has 20 citations.

19. (tompson2010fibrochondrogenesisresultsfrom media 1bd9e7f7): Stuart W. Tompson, Carlos A. Bacino, Nicole P. Safina, Michael B. Bober, Virginia K. Proud, Tara Funari, Michael F. Wangler, Lisette Nevarez, Leena Ala-Kokko, William R. Wilcox, David R. Eyre, Deborah Krakow, and Daniel H. Cohn. Fibrochondrogenesis results from mutations in the col11a1 type xi collagen gene. American journal of human genetics, 87 5:708-12, Nov 2010. URL: https://doi.org/10.1016/j.ajhg.2010.10.009, doi:10.1016/j.ajhg.2010.10.009. This article has 96 citations and is from a highest quality peer-reviewed journal.