DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects

Cardiac anomaly is one of the hallmarks of DiGeorge syndrome (DGS), observed in approximately 80% of patients. It often shows a characteristic morphology, termed as conotruncal heart defects. In many cases showing only the conotruncal heart defect, deletion of 22q11.2 region cannot be detected by fl...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Gao, Wenming, Higaki, Takashi, Eguchi-Ishimae, Minenori, Iwabuki, Hidehiko, Wu, Zhouying, Yamamoto, Eiichi, Takata, Hidemi, Ohta, Masaaki, Imoto, Issei, Ishii, Eiichi, Eguchi, Mariko
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785558/
https://ncbi.nlm.nih.gov/pubmed/27081520
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.4
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