Associated Papers
Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.
Fu X et al.
Human Genetics, 2015
Non-syndromic cleft palate: analysis of TBX22 exon 5 gene mutation.
Jiang RS et al.
Archives of Medical Science : Ams, 2012
TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.
Andreou AM et al.
American Journal of Human Genetics, 2007
TBX22 mutations are a frequent cause of cleft palate.
Marçano AC et al.
Journal of Medical Genetics, 2004
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.
Kohlhase J et al.
Journal of Medical Genetics, 2003
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.
Braybrook C et al.
Human Molecular Genetics, 2002
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