Article
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Human mutation - 1 Nov 2011
Guo Tingwei, McDonald-McGinn Donna, Blonska Anna, Shanske Alan, Bassett Anne S, Chow Eva, Bowser Mark, Sheridan Molly, Beemer Frits, Devriendt Koen, Swillen Ann, Breckpot Jeroen, Digilio Maria C, Marino Bruno, Dallapiccola Bruno, Carpenter Courtney, Zheng Xin, Johnson Jacob, Chung Jonathan, Higgins Anne Marie, Philip Nicole, Simon Tony J, Coleman Karlene, Heine-Suner Damian, Rosell Jordi, Kates Wendy, Devoto Marcella, Goldmuntz Elizabeth, Zackai Elaine, Wang Tao, Shprintzen Robert, Emanuel Beverly, Morrow Bernice
Abstract excerpt
Haploinsufficiency of TBX1, encoding a T-box transcription factor, is largely responsible for the physical malformations in velo-cardio-facial /DiGeorge/22q11.2 deletion syndrome (22q11DS) patients. Cardiovascular malformations in these patients are highly variable, raising the question as to whether DNA variations in the TBX1 locus on the remaining allele of 22q11.2 could be responsible. To test this, a large...
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