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Article

Altered SOX9 genital tubercle enhancer region in hypospadias.

The Journal of steroid biochemistry and molecular biology - 1 Jun 2017

Sreenivasan Rajini, Gordon Christopher T, Benko Sabina, de Iongh Robb, Bagheri-Fam Stefan, Lyonnet Stanislas, Harley Vincent

Abstract excerpt

Human mutations in the SOX9 gene or its regulatory region can disrupt testicular development, leading to disorders of sex development (DSDs). Our previous work involving the genomic analysis of isolated DSD patients revealed a 78kb minimal sex determining region (RevSex) far upstream of SOX9 that was duplicated in 46,XX and deleted in 46,XY DSDs. It was postulated that RevSex contains a gonadal enhancer. However,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27989796
DOI: 10.1016/j.jsbmb.2016.10.009

Genes

SOX9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Altered SOX9 genital tubercle enhancer region in hypospadias.PMID 27989796Read ↗

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Copy number variation of two separate regulatory regions upstream of <i>SOX9</i> causes isolated 46,XY or 46,XX disorder of sex developmentSemantic proximity Read ↗

Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD)Semantic proximity Read ↗

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