Kniest dysplasia
Definition:
References:
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[1]. D J Wilkin, et al. A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. Hum Mol Genet. 1994 Nov;3(11):1999-2003. [Content Brief]
[2]. G R Mortier, et al. A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer. Hum Mol Genet. 1995 Feb;4(2):285-8. [Content Brief]
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