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Article

Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia.

Acta paediatrica Japonica : Overseas edition - 1 Aug 1996

Foster J W

Abstract excerpt

The human testis determining factor (SRY) has been cloned from the Y chromosome. This gene is a dominant inducer of male differentiation. Mutations in the SRY gene result in an XY individual developing as a sex reversed phenotypic female. Sex reversal in humans can also be caused by mutations located in autosomal or X-linked loci. One such sex-reversing locus (SRAI) is associated with the developmental disorder...

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Source

Identifiers

PMID: 8840554
DOI: 10.1111/j.1442-200x.1996.tb03515.x

Genes

SOX9
SRY

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

Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia.PMID 8840554Read ↗

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 ↗

A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversalSemantic proximity Read ↗

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

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.Semantic proximity Read ↗

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

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9Semantic proximity Read ↗

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.Semantic proximity Read ↗

A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779.Semantic proximity Read ↗

Two novel translocation breakpoints upstream of <i>SOX9</i> define borders of the proximal and distal breakpoint cluster region in campomelic dysplasiaSemantic proximity Read ↗

Genetic study of SOX9 in a case of campomelic dysplasia.Semantic proximity Read ↗

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