Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. The phenotypic presentation of 22q11DS is highly variable; approximately 60-75 % of 22q11DS patients have been reported to have a congenital heart def...

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Veröffentlicht in:	Human Genetics 2016-03, Vol.135 (3), p.273-85
Hauptverfasser:	Mlynarski, Elisabeth E, Xie, Michael, Taylor, Deanne, Sheridan, Molly B, Guo, Tingwei, Racedo, Silvia E, McDonald-McGinn, Donna M, Chow, Eva W.C, Vorstman, Jacob, Swillen, Ann, Devriendt, Koenraad, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J, Roberts, Amy E, Piotrowicz, Małgorzata, Bearden, Carrie E, Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R, Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Goldmuntz, Elizabeth, Bassett, Anne S, Morrow, Bernice E, Emanuel, Beverly S
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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