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Article

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

American journal of medical genetics. Part A - 1 Feb 2012

Tompson Stuart W, Faqeih Eissa Ali, Ala-Kokko Leena, Hecht Jacqueline T, Miki Rika, Funari Tara, Funari Vincent A, Nevarez Lisette, Krakow Deborah, Cohn Daniel H

Abstract excerpt

Fibrochondrogenesis is a severe, recessively inherited skeletal dysplasia shown to result from mutations in the gene encoding the proα1(XI) chain of type XI collagen, COL11A1. The first of two cases reported here was the affected offspring of first cousins and sequence analysis excluded mutations in COL11A1. Consequently, whole-genome SNP genotyping was performed to identify blocks of homozygosity,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 22246659
DOI: 10.1002/ajmg.a.34406
PMCID: PMC3264686

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.PMID 22246659Read ↗

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