Article
X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.
Clinical genetics - 1 Apr 2013
Pauws E, Peskett E, Boissin C, Hoshino A, Mengrelis K, Carta E, Abruzzo M A, Lees M, Moore G E, Erickson R P, Stanier P
Abstract excerpt
X-linked cleft palate (CPX) is caused by mutations in the gene encoding the TBX22 transcription factor and is known to exhibit phenotypic variability, usually involving either a complete, partial or submucous cleft palate, with or without ankyloglossia. This study hypothesized a possible involvement of TBX22 in a family with X-linked, CHARGE-like Abruzzo-Erickson syndrome, of unknown etiology. The phenotype...
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