Article
A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
BMC medical genetics - 27 May 2020
Shao Jiashen, Zhao Sen, Yan Zihui, Wang Lianlei, Zhang Yuanqiang, Lin Mao, Yu Chenxi, Wang Shengru, Niu Yuchen, Li Xiaoxin, Qiu Guixing, Zhang Jianguo, Wu Zhihong, Wu Nan
Abstract excerpt
BACKGROUND: Multiple epiphyseal dysplasia (MED) is a skeletal disorder characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. At least 66% of the reported autosomal dominant MED (AD-MED) cases are caused by COMP mutations. METHODS: We recruited a four-generation Chinese family with early-onset hip osteoarthritis, flatfoot, brachydactyly, and mild short stature. An...
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