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 whethe...

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Veröffentlicht in:	Human mutation 2011-11, Vol.32 (11), p.1278-1289
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	22q11 Deletion Syndrome - genetics 22q11.2 deletion syndrome Aortic arch Cardiovascular Abnormalities - genetics cardiovascular defects chromosome 22 Chromosomes, Human, Pair 22 - genetics DiGeorge Syndrome - genetics Fetuses Gene frequency Genetic Variation Genomes genomic disorder Genotype haploinsufficiency Haplotypes Heart Humans Phenotype Polymorphism, Single Nucleotide Single-nucleotide polymorphism T-Box Domain Proteins - genetics Tbx1 protein TBX1 sequencing Transcription factors
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