GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes

Disorders of sex development (DSD) consist of a wide range of conditions involving numerous genes. Nevertheless, about half of 46,XY individuals remain genetically unsolved. GATA4 gene variants, mainly related to congenital heart defects (CHD), have also been recently associated with 46,XY DSD. In t...

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Detalles Bibliográficos
Autores principales: Martinez de LaPiscina, Idoia, de Mingo, Carmen, Riedl, Stefan, Rodriguez, Amaia, Pandey, Amit V., Fernández-Cancio, Mónica, Camats, Nuria, Sinclair, Andrew, Castaño, Luis, Audi, Laura, Flück, Christa E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893726/
https://www.ncbi.nlm.nih.gov/pubmed/29670578
http://dx.doi.org/10.3389/fendo.2018.00142

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893726/
https://www.ncbi.nlm.nih.gov/pubmed/29670578
http://dx.doi.org/10.3389/fendo.2018.00142

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