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Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

We performed whole exome sequence (WES) to identify genetic modifiers on 184 individuals with 22q11.2 deletion syndrome (22q11DS), of whom 89 case subjects had severe congenital heart disease (CHD) and 95 control subjects had normal hearts. Three genes including JMJD1C (jumonji domain containing 1C)...

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Detalles Bibliográficos
Publicado en:Am J Hum Genet
Main Authors: Guo, Tingwei, Chung, Jonathan H., Wang, Tao, McDonald-McGinn, Donna M., Kates, Wendy R., Hawuła, Wanda, Coleman, Karlene, Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2015
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4678435/
https://ncbi.nlm.nih.gov/pubmed/26608785
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.10.013
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