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Article

A Rare Case of Precocious Puberty in a Child with a Novel GATA-4 Gene Mutation: Implications for Disorders of Sex Development (DSD) and Review of the Literature.

Genes - 16 Aug 2023

Aversa Tommaso, Luppino Giovanni, Corica Domenico, Pepe Giorgia, Valenzise Mariella, Coco Roberto, Li Pomi Alessandra, Wasniewska Malgorzata

Abstract excerpt

BACKGROUND: Disorders/Differences of sex development (DSD) are often due to disruptions of the genetic programs that regulate gonad development. The GATA-4 gene, located on chromosome 8p23.1, encodes GATA-binding protein 4 (GATA-4), a transcription factor that is essential for cardiac and gonadal development and sexual differentiation. CASE DESCRIPTION: A child with a history of micropenis and cryptorchidism. At...

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PMID: 37628683
DOI: 10.3390/genes14081631
PMCID: PMC10454567

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