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Article

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.

Molecular genetics & genomic medicine - 1 Nov 2020

Al Shamsi Aisha, Al Hassani Noura, Hamchou Moustafa, Almazrouei Raya, Mhanni Aziz

Abstract excerpt

BACKGROUND: Disorders of sex development (DSD) can result from congenital defect in sex determining pathway. Mitogen-activated protein kinase kinase kinase 1 (MAP3K1) is one of the commonest genes that has been identified to cause 46, XY DSD. It can present as complete or partial gonadal dysgenesis even within the same kindred. Few mutations in this gene have previously been identified in a high proportion of...

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Share to Gonadal Dysgenesis, 46,XY

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32986312
DOI: 10.1002/mgg3.1514
PMCID: PMC7667354

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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