Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.

Li, Yun

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. [electronic resource] - American journal of human genetics Dec 2010 - 757-67 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2010.10.003 doi


Animals
Bone Morphogenetic Proteins--metabolism
Brachydactyly
Chromosome Mapping
Chromosomes, Human, Pair 15
Foot Deformities, Congenital--genetics
Hand Deformities, Congenital--genetics
Humans
Mutation
N-Acetylgalactosaminyltransferases--genetics
Signal Transduction
Syndrome
Zebrafish