Article
TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Mar 2012
Kaewkhampa Arunee, Jotikasthira Dhirawat, Malaivijitnond Sutti, Kantaputra Piranit
Abstract excerpt
Mutations in TBX22 are known causes of cleft palate with/without ankyloglossia. We identified a hemizygous missense c.452G>T (p.Arg151Leu) mutation in a Thai boy who had unilateral complete cleft lip and palate, agenesis of a maxillary second premolar, ankyloglossia, hypoplastic carpal bones, and hypoplastic right thumb. Our study has demonstrated that TBX22 mutation is associated not only with cleft palate and...
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