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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Pubblicato in:Am J Hum Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2015
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Accesso online: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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