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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Bibliographische Detailangaben
Veröffentlicht in:Hum Genome Var
Hauptverfasser: Gao, Wenming, Higaki, Takashi, Eguchi-Ishimae, Minenori, Iwabuki, Hidehiko, Wu, Zhouying, Yamamoto, Eiichi, Takata, Hidemi, Ohta, Masaaki, Imoto, Issei, Ishii, Eiichi, Eguchi, Mariko
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2015
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Article
Online Zugang: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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