Article
The phenotypic spectrum of COL2A1 mutations.
Human mutation - 1 Jul 2005
Nishimura Gen, Haga Nobuhiko, Kitoh Hiroshi, Tanaka Yoko, Sonoda Toru, Kitamura Miho, Shirahama Shuya, Itoh Taichi, Nakashima Eiji, Ohashi Hirofumi, Ikegawa Shiro
Abstract excerpt
Heterozygous mutations of COL2A1 create several clinical entities collectively termed type II collagenopathies. These disorders not only impair skeletal growth but also cause ocular and otolaryngological abnormalities. The classical phenotypes include the spondyloepiphyseal dysplasia (SED) spectrum with variable severity, Stickler dysplasia type I (STD-I), and Kniest dysplasia (KND). Most COL2A1 mutations occur...
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