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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2015
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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 |
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