Condition: Temtamy preaxial brachydactyly syndrome


rs387906985 in CHSY1 gene and Temtamy preaxial brachydactyly syndrome PMID 21129727 2010 Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.

PMID 21129728 2010 Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.