Associated Papers
A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.
Sher G et al.
European Journal of Medical Genetics, 2014
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
Li Y et al.
American Journal of Human Genetics, 2010
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