GDF.ag.6

(redirected from Klip-Feil malformation)

GDF.ag.6

A gene on chromosome 8q22.1 that encodes a member of the bone morphogenetic protein (BMP) family of secreted signalling molecules. GDF6 is required for normal formation of specific bones and joints in the limbs, skull and axial skeleton.

Molecular pathology
GDF6 mutations result in colobomata (congenital defects in ocular development) and Klippel-Feil syndrome (a congenital disorder of spinal segmentation).
References in classic literature ?
He looks around and everywhere sees roguish eyes and laughing lips.