Article
A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head.
PloS one - 1 Jan 2014
Li Na, Yu Jian, Cao Xiang, Wu Qiu-Yue, Li Wei-Wei, Li Tian-Fu, Zhang Cui, Cui Ying-Xia, Li Xiao-Jun, Yin Zhi-Min, Xia Xin-Yi
Abstract excerpt
OBJECTIVE: Mutations in the type II collagen gene are associated with certain human disorders, collectively termed type II collagenopathies. They include Legg-Calvé-Perthes disease (LCPD) and avascular necrosis of the femoral head (ANFH). These two diseases are skeletal dysplasias, inherited in an autosomal dominant fashion, characterized by groin pain, dislocation of the hip and diminished joint mobility. Coxa...
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