Article
Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.
Human molecular genetics - 1 Nov 2009
Pauws Erwin, Hoshino Aya, Bentley Lucy, Prajapati Suresh, Keller Charles, Hammond Peter, Martinez-Barbera Juan-Pedro, Moore Gudrun E, Stanier Philip
Abstract excerpt
Craniofacial defects involving the lip and/or palate are among the most common human birth defects. X-linked cleft palate and ankyloglossia results from loss-of-function mutations in the gene encoding the T-box transcription factor TBX22. Further studies show that TBX22 mutations are also found in around 5% of non-syndromic cleft palate patients. Although palate defects are obvious at birth, the underlying...
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