Article
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
American journal of medical genetics. Part A - 1 Nov 2012
Herman Sean B, Guo Tingwei, McGinn Donna M McDonald, Blonska Anna, Shanske Alan L, Bassett Anne S, Chow Eva W C, Bowser Mark, Sheridan Molly, Beemer Frits, Devriendt Koen, Swillen Ann, Breckpot Jeroen, Digilio M Cristina, Marino Bruno, Dallapiccola Bruno, Carpenter Courtney, Zheng Xin, Johnson Jacob, Chung Jonathan, Higgins Anne Marie, Philip Nicole, Simon Tony, Coleman Karlene, Heine-Suner Damian, Rosell Jordi, Kates Wendy, Devoto Marcella, Zackai Elaine, Wang Tao, Shprintzen Robert, Emanuel Beverly S, Morrow Bernice E
Abstract excerpt
Velo-cardio-facial syndrome/DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, with an estimated incidence of 1/2,000-1/4,000 live births. Approximately 9-11% of patients with this disorder have an overt cleft palate (CP), but the genetic factors responsible for CP in the 22q11DS subset are unknown. The TBX1 gene, a member of the T-box transcription...
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