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A GDF5 Point Mutation Strikes Twice - Causing BDA1 and SYNS2

3 Oct 2013

Abstract excerpt

Growth and Differentiation Factor 5 (GDF5) is a secreted growth factor that belongs to the Bone Morphogenetic Protein (BMP) family and plays a pivotal role during limb development. GDF5 is a susceptibility gene for osteoarthritis (OA) and mutations in GDF5 are associated with a wide variety of skeletal malformations ranging from complex syndromes such as acromesomelic chondrodysplasias to isolated forms of...

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PMID: 24098149
DOI: 10.1371/journal.pgen.1003846

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