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
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Title
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
Authors
Keywords
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Journal
Frontiers in Endocrinology
Volume 9, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2018-04-04
DOI
10.3389/fendo.2018.00142
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Note: Only part of the references are listed.- Identification of intronic-splice site mutations in GATA4 gene in Indian patients with congenital heart disease
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- Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis
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- Loss-of-function mutation in GATA4 causes anomalies of human testicular development
- (2011) D. Lourenco et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)
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- A GATA4/WT1 cooperation regulates transcription of genes required for mammalian sex determination and differentiation
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- Positive Regulation of Steroidogenic Acute Regulatory Protein Gene Expression through the Interaction betweenDlxandGATA-4for Testicular Steroidogenesis
- (2008) Hisayo Nishida et al. ENDOCRINOLOGY
- The effect of human GATA4 gene mutations on the activity of target gonadal promoters
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- Role of the GATA Family of Transcription Factors in Endocrine Development, Function, and Disease
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