Article
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
American journal of human genetics - 1 Jan 2009
Tompson Stuart W, Merriman Barry, Funari Vincent A, Fresquet Maryline, Lachman Ralph S, Rimoin David L, Nelson Stanley F, Briggs Michael D, Cohn Daniel H, Krakow Deborah
Abstract excerpt
Analysis of a nuclear family with three affected offspring identified an autosomal-recessive form of spondyloepimetaphyseal dysplasia characterized by severe short stature and a unique constellation of radiographic findings. Homozygosity for a haplotype that was identical by descent between two of the affected individuals identified a locus for the disease gene within a 17.4 Mb interval on chromosome 15, a region...
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