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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Dettagli Bibliografici
Pubblicato in:Front Endocrinol (Lausanne)
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2018
Soggetti:
Endocrinology
Accesso online: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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