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Article

XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.

American journal of medical genetics. Part A - 1 Jul 2012

Moalem Sharon, Babul-Hirji Riyana, Stavropolous Dmitri J, Wherrett Diane, Bägli Darius J, Thomas Paul, Chitayat David

Abstract excerpt

Differentiation of the bipotential gonad into testis is initiated by the Y chromosome-linked gene SRY (Sex-determining Region Y) through upregulation of its autosomal direct target gene SOX9 (Sry-related HMG box-containing gene 9). Sequence and chromosome homology studies have shown that SRY most probably evolved from SOX3, which in humans is located at Xq27.1. Mutations causing SOX3 loss-of-function do not...

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Source

Identifiers

PMID: 22678921
DOI: 10.1002/ajmg.a.35390

Genes

SOX3
SRY
SOX9

Provenance

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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