Article
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
Nature genetics - 1 Sept 1995
Tiller G E, Polumbo P A, Weis M A, Bogaert R, Lachman R S, Cohn D H, Rimoin D L, Eyre D R
Abstract excerpt
The chondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth or development of cartilage. Current classification is based on mode of inheritance as well as clinical, histologic, and/or radiographic features. A clinical spectrum of chondrodysplasia phenotypes, ranging from mild to perinatal lethal, is due to defects in the gene for type II collagen, COL2A1. This spectrum includes...
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