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Article

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2017

Baetens Dorien, Stoop Hans, Peelman Frank, Todeschini Anne-Laure, Rosseel Toon, Coppieters Frauke, Veitia Reiner A, Looijenga Leendert H J, De Baere Elfride, Cools Martine

Abstract excerpt

PURPOSE: We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD). METHODS: Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry of sex-specific markers was performed on patients' gonads. The consequences of mutation were investigated using...

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Topics

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Share to Exome Sequencing
Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nuclear Proteins

Share to Sequence Analysis, RNA

Share to Steroidogenic Factor 1

Share to Testis

Share to Up-Regulation

Source

Open in PubMed Open full text

Identifiers

PMID: 27490115
DOI: 10.1038/gim.2016.118
PMCID: PMC5392598

Genes

SRY
FOXL2
MAMLD1
SOX9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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