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Article

A SOX9 duplication and familial 46,XX developmental testicular disorder.

The New England journal of medicine - 6 Jan 2011

Cox James J, Willatt Lionel, Homfray Tessa, Woods C Geoffrey

Abstract excerpt

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Topics

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Share to SOX9 gene
Share to Genes, Dominant
Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Single Nucleotide

Share to Sex-Determining Region Y Protein

Share to Sexual Differentiation and Disorders

Share to SOX9 Transcription Factor

Source

Identifiers

PMID: 21208124
DOI: 10.1056/NEJMc1010311

Genes

SOX9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A SOX9 duplication and familial 46,XX developmental testicular disorder.PMID 21208124Read ↗

A rare case of 46, XX SRY-negative male with a ∼74-kb duplication in a region upstream of SOX9Semantic proximity Read ↗

A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.Semantic proximity Read ↗

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

Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literatureSemantic proximity Read ↗

Phenotypes Linked to Duplication Upstream of SOX9 : New Insights Into Presentation and DiagnosisSemantic proximity Read ↗

SOX3 duplication in a boy with 46, XX ovotesticular disorder of sex development and his 46, XX sister with atypical genitalia: Probable germline mosaicismSemantic proximity Read ↗

[Exploration of the pathogenesis for a SRY-negative male with 46,XX disorder of sex development].Semantic proximity Read ↗

46,XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutation.Semantic proximity Read ↗

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX 9Semantic proximity Read ↗

Autosomal XX sex reversal caused by duplication of SOX9.Semantic proximity Read ↗

[Clinical and genetic analysis of a child with 46,XX male phenotype due to SOX3 gene duplication].Semantic proximity Read ↗

Mutations in SRY and SOX9: testis-determining genes.Semantic proximity Read ↗

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