Article
Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1.
Arthritis and rheumatism - 1 Jun 2008
Su Peiqiang, Li Ru, Liu Shangli, Zhou Yan, Wang Xinguang, Patil Nilesh, Mow Christopher S, Mason Justin C, Huang Dongsheng, Wang Yiming
Abstract excerpt
OBJECTIVE: To identify the genetic abnormality responsible for osteoarthritis (OA), avascular necrosis (AVN) of the femoral head, and Legg-Calvé-Perthes disease in a single family, and to determine factors responsible for the distinct phenotypes manifested by different family members. METHODS: Forty-two members of a 5-generation family were recruited and investigated. Diagnosis was made by independent orthopedic...
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