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X-linked cleft palate with ankyloglossia

MIM.303400

Monday 15 October 2007

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