X-linked cleft palate with ankyloglossia
MIM.303400
X-linked cleft palate with ankyloglossia (CPX)
Etiology
TBX22 mutations
See also
cleft palate
TBXs
References
Andreou AM, Pauws E, Jones MC, Singh MK, Bussen M, Doudney K, Moore GE, Kispert A, Brosens JJ, Stanier P. TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression. Am J Hum Genet. 2007 Oct;81(4):700-12. PMID: #17846996#