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PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome

Congenital heart disease (CHD), the most common type of birth defect, is still the leading non-infectious cause of infant morbidity and mortality in humans. Aggregating evidence demonstrates that genetic defects are involved in the pathogenesis of CHD. However, CHD is genetically heterogeneous and t...

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Detalles Bibliográficos
Autores principales: Zhao, Cui-Mei, Peng, Lu-Ying, Li, Li, Liu, Xing-Yuan, Wang, Juan, Zhang, Xian-Ling, Yuan, Fang, Li, Ruo-Gu, Qiu, Xing-Biao, Yang, Yi-Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404345/
https://www.ncbi.nlm.nih.gov/pubmed/25893250
http://dx.doi.org/10.1371/journal.pone.0124409