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Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients
Authors: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  International Chromosome q. Consortium
Affiliation:Department of Genetics, Ob/Gyn and Pediatrics, Albert Einstein College of Medicine, Bronx, New York, USA.
Abstract:
Keywords:22q11.2 deletion syndrome  TBX1 sequencing  cardiovascular defects  genomic disorder
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