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