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Article

Human sex-determination and disorders of sex-development (DSD).

Seminars in cell & developmental biology - 1 Sept 2015

Bashamboo Anu, McElreavey Ken

Abstract excerpt

Several new genes and pathways have been identified in recent years associated with human errors of sex-determination or DSD. SOX family gene mutations, as well as mutations involving GATA4, FOG2 and genes involved in MAP kinase signaling have been associated with virilization in 46,XX individuals or with 46,XY gonadal dysgenesis. Furthermore, mutations involving another key gene in sex-determination, NR5A1, are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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Identifiers

PMID: 26526145
DOI: 10.1016/j.semcdb.2015.10.030

Genes

GATA4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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