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Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report

BACKGROUND: Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs. Cardiac abnormalities vary greatly in congenital d...

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Detalles Bibliográficos
Autores principales: Wu, Ruo-hao, Li, Dong-fang, Tang, Wen-ting, Qiu, Kun-yin, Li, Yu, Liao, Xiong-yu, Tang, Dan-xia, Qin, Li-jun, Deng, Bing-qing, Luo, Xiang-yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5781283/
https://www.ncbi.nlm.nih.gov/pubmed/29361989
http://dx.doi.org/10.1186/s13256-017-1528-4