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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Publicado no:Hum Genet
Main Authors: 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, Koen, 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4896312/
https://ncbi.nlm.nih.gov/pubmed/26742502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1623-9
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