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

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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Bibliographic Details
Main Authors: Idoia Martinez de LaPiscina, Carmen de Mingo, Stefan Riedl, Amaia Rodriguez, Amit V. Pandey, Mónica Fernández-Cancio, Nuria Camats, Andrew Sinclair, Luis Castaño, Laura Audi, Christa E. Flück
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-04-01
Series:Frontiers in Endocrinology
Subjects:
disorder of sexual development
DSD
GATA4
congenital heart defects
oligogenic
46,XY DSD
Online Access:http://journal.frontiersin.org/article/10.3389/fendo.2018.00142/full

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http://journal.frontiersin.org/article/10.3389/fendo.2018.00142/full

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