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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Hum Genome Var
Главные авторы: Gao, Wenming, Higaki, Takashi, Eguchi-Ishimae, Minenori, Iwabuki, Hidehiko, Wu, Zhouying, Yamamoto, Eiichi, Takata, Hidemi, Ohta, Masaaki, Imoto, Issei, Ishii, Eiichi, Eguchi, Mariko
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2015
Предметы:
Article
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы