Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

Abstract excerpt

Klippel-Feil syndrome (KFS) is a congenital disorder of spinal segmentation distinguished by the bony fusion of anterior/cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. Here we report mutations at the GDF6 gene locus in familial and sporadic cases of KFS including the recurrent missense mutation of an extremely...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Connective tissue disorders research
• Share to Hip disorders and treatments