Defective Joint Development and Maintenance in GDF6‐Related Multiple Synostoses Syndrome
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DOI: 10.1002/jbmr.4785
Abstract: 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.… read more here.
Keywords: gdf6 tyr443asn; multiple synostoses; gdf6; joint development ... See more keywords