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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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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 |