A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.

Abstract

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… (More)

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Cite this paper

@article{Wilkin1994ASA, title={A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.}, author={David Wilkin and Ray Bogaert and R. S. Lachman and David L. Rimoin and Dominic Eyre and Daniel H Cohn}, journal={Human molecular genetics}, year={1994}, volume={3 11}, pages={1999-2003} }