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A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios

Background: Polyhydramnios occurs frequently during pregnancy. Mutations in the MAGED2 gene can cause X-linked acute early-onset polyhydramnios with a severe but transient form of antenatal Bartter's syndrome. Case Presentation: Here, we report a new novel frameshift mutation c.733_734delCT (p....

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Detalles Bibliográficos
Autores principales: Wu, Xiaoxia, Huang, Le, Luo, Caiqun, Liu, Yang, Niu, Jianmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8671809/
https://www.ncbi.nlm.nih.gov/pubmed/34926352
http://dx.doi.org/10.3389/fped.2021.778814