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Article

Expanding the phenotype of copy number variations involving NR0B1 (DAX1).

European journal of human genetics : EJHG - 1 Apr 2024

Veyt Nathalie, Van Buggenhout Griet, Devriendt Koen, Van Den Bogaert Kris, Brison Nathalie

Abstract excerpt

46,XY gonadal dysgenesis (GD) is a disorder of sex development due to incomplete gonadal differentiation into testes, resulting in female to ambiguous external genitalia. Duplications at the Xp21.2 locus involving the NR0B1 (DAX1) gene have previously been associated with 46,XY GD. More recently, a complex structural variant not directly involving NR0B1 has been reported in 46,XY GD illustrating that the...

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Share to DAX-1 Orphan Nuclear Receptor
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Gonadal Dysgenesis, 46,XY

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Identifiers

PMID: 38200083
DOI: 10.1038/s41431-023-01522-6
PMCID: PMC10999439

Genes

NR0B1

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

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