GATA4 variant identified by whole‐exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development

We identified a heterozygous p.(R284H) variant of GATA4 in a Japanese family with atrial septal defect, including boys with apparently normal male sex development. The findings, together with the previous data, imply that GATA4 variants primarily cause congenital heart disease and rarely result in 4...

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Detalles Bibliográficos
Autores principales: Shimizu, Daisuke, Iwashima, Satoru, Sato, Keisuke, Hayano, Satoshi, Fukami, Maki, Saitsu, Hirotomo, Ogata, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230668/
https://www.ncbi.nlm.nih.gov/pubmed/30455927
http://dx.doi.org/10.1002/ccr3.1851

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