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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Detalhes bibliográficos
Publicado no:Front Endocrinol (Lausanne)
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018
Assuntos:
Endocrinology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5893726/
https://ncbi.nlm.nih.gov/pubmed/29670578
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2018.00142
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