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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محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: 2011
الموضوعات:
Article
الوصول للمادة أونلاين: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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