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Article

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

Nature - 8 Dec 1994

Foster J W, Dominguez-Steglich M A, Guioli S, Kwok C, Weller P A, Stevanović M, Weissenbach J, Mansour S, Young I D, Goodfellow P N

Abstract excerpt

Induction of testis development in mammals requires the presence of the Y-chromosome gene SRY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone...

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Source

Identifiers

PMID: 7990924
DOI: 10.1038/372525a0

Genes

SRY
SOX9

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.PMID 7990924Read ↗

The role of SOX9 in autosomal sex reversal and campomelic dysplasia.Semantic proximity Read ↗

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.Semantic proximity Read ↗

Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia.Semantic proximity Read ↗

Turning on the male--SRY, SOX9 and sex determination in mammals.Semantic proximity Read ↗

The Molecular Action and Regulation of the Testis-Determining Factors, SRY (Sex-Determining Region on the Y Chromosome) and SOX9 [SRY-Related High-Mobility Group (HMG) Box 9]Semantic proximity Read ↗

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

Interactions between SRY and SOX genes in mammalian sex determinationSemantic proximity Read ↗

Sex with two SOX on: SRY and SOX9 in testis development.Semantic proximity Read ↗

<i>Sox9</i> in Testis DeterminationSemantic proximity Read ↗

Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.Semantic proximity Read ↗

Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.Semantic proximity Read ↗

<i>Sry</i>: the master switch in mammalian sex determinationSemantic proximity Read ↗

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