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gdf6

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Official Full Name
growth differentiation factor 6
Background
This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation.
Synonyms
GDF6; growth differentiation factor 6; growth/differentiation factor 6; BMP13; GDF-6; Klippel-Feil syndrome; Klip-Feil malformation; Klippel-Feil malformation; growth/differentiation factor 16; KFM; KFS; KFS1; KFSL; SGM1; CDMP2; MCOP4; SCDO4; MCOPCB6; MGC

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