X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result fromTBX22splicing mutations
Author:
Affiliation:
1. UCL Institute of Child Health; 30 Guilford Street; London; UK
2. Department of Biology; California State University; Chico; CA; USA
3. Department of Pediatrics; University of Arizona Health Science Center; Tucson; AZ; USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2012.01930.x/fullpdf
Reference21 articles.
1. X-linked cleft palate and ankyloglossia (CPX) is caused by mutations in the T-box transcription factor gene TBX22;Braybrook;Nat Genet,2001
2. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients;Braybrook;Hum Mol Genet,2002
3. TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation and transcriptional repression;Andreou;Am J Hum Genet,2007
4. TBX22 mutations are a frequent cause of cleft palate;Marçano;J Med Genet,2004
5. TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population;Suphapeetiporn;Clin Genet,2007
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