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Article

Defective Joint Development and Maintenance in GDF6-Related Multiple Synostoses Syndrome.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Apr 2023

Yu Tingting, Li Guoqiang, Wang Chen, Li Niu, Yao Ruen, Wang Jian

Abstract excerpt

Multiple synostoses syndromes (SYNS) are a group of rare genetic bone disorders characterized by multiple joint fusions. We previously reported an SYNS4-causing GDF6 c.1330 T > A (p.Tyr444Asn) mutation, which reduced Noggin-induced GDF6 inhibition and enhanced SMAD1/5/8 signaling. However, the mechanisms by which GDF6 gain-of-function mutation alters joint formation and the comprehensive molecular portraits of...

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PMID: 36744814
DOI: 10.1002/jbmr.4785

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