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Article

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

Cell - 16 Dec 1994

Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Bricarelli F D, Keutel J, Hustert E, Wolf U, Tommerup N, Schempp W, Scherer G

Abstract excerpt

A human autosomal XY sex reversal locus, SRA1, associated with the skeletal malformation syndrome campomelic dysplasia (CMPD1), has been placed at distal 17q. The SOX9 gene, a positional candidate from the chromosomal location and expression pattern reported for mouse Sox9, was isolated and characterized. SOX9 encodes a putative transcription factor structurally related to the testis-determining factor SRY and is...

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Source

Identifiers

PMID: 8001137
DOI: 10.1016/0092-8674(94)90041-8

Genes

SOX9
SRA1
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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.PMID 8001137Read ↗

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

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

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

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

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

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 ↗

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1.Semantic proximity Read ↗

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

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

The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos.Semantic proximity Read ↗

Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.Semantic proximity Read ↗

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