Article
Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.
Clinical dysmorphology - 1 Jan 2005
Chaabouni Myriam, Smaoui Nizar, Benneji Neila, M'rad Ridha, Jemaa Lamia Ben, Hachicha Slah, Chaabouni Habiba
Abstract excerpt
Cleft palate with ankyloglossia (CPX; OMIM 303400) is inherited as a Mendelian semidominant X-Linked disorder. Linkage studies resulted in mapping CPX to Xq13-q 21-31 region. TBX22 was identified as causing CPX. We report a new mutation in a Tunisian family and the first Arab family with X-Linked cleft palate and ankyloglossia. The family includes 6 affected members, 4 males and 2 females. Linkage study was...
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