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Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

โœ Scribed by Herman, Sean B.; Guo, Tingwei; McGinn, Donna M. McDonald; Blonska, Anna; Shanske, Alan L.; Bassett, Anne S.; Chow, Eva W.C.; 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; Coleman, Karlene; Heine-Suner, Damian; Rosell, Jordi; Kates, Wendy; Devoto, Marcella; Zackai, Elaine; Wang, Tao; Shprintzen, Robert; Emanuel, Beverly S.; Morrow, Bernice E.


Book ID
118751132
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
1009 KB
Volume
158A
Category
Article
ISSN
1552-4825

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Genotype and cardiovascular phenotype co
โœ Tingwei Guo; Donna McDonald-McGinn; Anna Blonska; Alan Shanske; Anne S. Bassett; ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 611 KB

Haploinsufficiency of TBX1, encoding a Tbox 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