Ontology highlight
ABSTRACT:
SUBMITTER: Tompson SW
PROVIDER: S-EPMC3264686 | biostudies-literature | 2012 Feb
REPOSITORIES: biostudies-literature
Tompson Stuart W SW Faqeih Eissa Ali EA Ala-Kokko Leena L Hecht Jacqueline T JT Miki Rika R Funari Tara T Funari Vincent A VA Nevarez Lisette L Krakow Deborah D Cohn Daniel H DH
American journal of medical genetics. Part A 20120113 2
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, identical-by-descent, wherein the disease locus would reside. COL11A1 was not within a region of h ...[more]