Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio- facial/DiGeorge/22q11.2 deletion syndrome patients

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...

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Autors principals: Guo, Tingwei, McGinn, Donna McDonald, Blonska, Anna, Shanske, Alan, Bassett, Anne, Chow, Eva, 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 J., Coleman, Karlene, Heine-Suner, Damian, Rosell, Jordi, Kates, Wendy, Devoto, Marcella, Goldmuntz, Elizabeth, Zackai, Elaine, Wang, Tao, Shprintzen, Robert, Emanuel, Beverly, Morrow, Bernice
Format: Artigo
Idioma:Inglês
Publicat: 2011
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3196824/
https://ncbi.nlm.nih.gov/pubmed/21796729
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21568
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