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Background: GDF6 is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this protein result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation.