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

doi:10.1016/0092-8674(94)90041-8

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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 chara...

Topics

Amino Acid Sequence
Base Sequence
Cartilage
Chromosome Mapping
Chromosomes, Human, Pair 17
Cloning, Molecular
DNA-Binding Proteins
Disorders of Sex Development
Female
Fetus
Fibula
Genetic Markers
High Mobility Group Proteins
Humans

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

In Situ Hybridization, Fluorescence

Male

Molecular Sequence Data

Mutation

Source

Open in PubMed

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 30 Aug 2026. Prepared record publication-8001137-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.