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

Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA
Hum Mutat. 2008 29 (8): 1017-27

PMID: 18425797 · DOI:10.1002/humu.20741

MeSH Terms (17)

Amino Acid Sequence Animals Bone Morphogenetic Proteins Chromosome Inversion DNA Mutational Analysis Female Growth Differentiation Factor 6 Humans Klippel-Feil Syndrome Male Mice Molecular Sequence Data Mutation, Missense Pedigree Sequence Alignment Spine Xenopus laevis

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