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Article

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.

Molecular genetics & genomic medicine - 1 Mar 2020

van den Bergen Jocelyn A, Robevska Gorjana, Eggers Stefanie, Riedl Stefan, Grover Sonia R, Bergman Philip B, Kimber Chris, Jiwane Ashish, Khan Sophy, Krausz Csilla, Raza Jamal, Atta Irum, Davis Susan R, Ono Makato, Harley Vincent, Faradz Sultana M H, Sinclair Andrew H, Ayers Katie L

Abstract excerpt

BACKGROUND: GATA-binding protein 4 (GATA4) and Friend of GATA 2 protein (FOG2, also known as ZFPM2) form a heterodimer complex that has been shown to influence transcription of genes in a number of developmental systems. Recent evidence has also shown these genes play a role in gonadal sexual differentiation in humans. Previously we identified four variants in GATA4 and an unexpectedly large number of variants in...

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Identifiers

PMID: 31962012
DOI: 10.1002/mgg3.1095
PMCID: PMC7057099

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