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Article

Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.

The Journal of clinical endocrinology and metabolism - 1 Aug 2007

Barbaro Michela, Oscarson Mikael, Schoumans Jacqueline, Staaf Johan, Ivarsson Sten A, Wedell Anna

Abstract excerpt

CONTEXT: Testis development is a tightly regulated process that requires an efficient and coordinated spatiotemporal action of many factors, and it has been shown that several genes involved in gonadal development exert a dosage effect. Chromosomal imbalances have been reported in several patients presenting with gonadal dysgenesis as part of severe dysmorphic phenotypes. RESULTS: We screened for submicroscopic...

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Share to Chromosomes, Human, Pair 21
Share to DAX-1 Orphan Nuclear Receptor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Gonadal Dysgenesis, 46,XY

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Source

Identifiers

PMID: 17504899
DOI: 10.1210/jc.2007-0505

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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