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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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Detalles Bibliográficos
Autores principales: Gao, Wenming, Higaki, Takashi, Eguchi-Ishimae, Minenori, Iwabuki, Hidehiko, Wu, Zhouying, Yamamoto, Eiichi, Takata, Hidemi, Ohta, Masaaki, Imoto, Issei, Ishii, Eiichi, Eguchi, Mariko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785558/
https://www.ncbi.nlm.nih.gov/pubmed/27081520
http://dx.doi.org/10.1038/hgv.2015.4