Article
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
Human molecular genetics - 1 Nov 1994
Wilkin D J, Bogaert R, Lachman R S, Rimoin D L, Eyre D R, Cohn D H
Abstract excerpt
Kniest dysplasia is a moderately severe chondrodysplasia phenotype that results from mutations in the gene for type II collagen, COL2A1. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. Recently, deletions of all or part of exon 12 have been identified in individuals with Kniest dysplasia, suggesting that...
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