Article
Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia.
PloS one - 1 Jan 2012
Sun Jing, Xia Weibo, He Shuli, Zhao Zhen, Nie Min, Li Mei, Jiang Yan, Xing Xiaoping, Wang Ou, Meng Xunwu, Zhou Xueying
Abstract excerpt
BACKGROUND: The WNT1-inducible signaling pathway protein 3 (WISP3), which belongs to the CCN (cysteine-rich protein 61, connective tissue growth factor, nephroblastoma overexpressed) family, is a secreted cysteine-rich matricellular protein that is involved in chondrogenesis, osteogenesis and tumorigenesis. WISP3 gene mutations are associated with progressive pseudorheumatoid dysplasia (PPD, OMIM208230), an...
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