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Article

Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation.

Journal of medical genetics - 1 Sept 1996

Kwok C, Goodfellow P N, Hawkins J R

Abstract excerpt

The skeletal malformation syndrome campomelic dysplasia (CMD1) is caused by mutations within the SOX9 gene or chromosomal rearrangement breakpoints outside SOX9. Approximately three quarters of cases of CMD1 in XY subjects show complete or partial sex reversal. As some mutations cause CMD1 alone and others cause CMD1 and sex reversal, it is conceivable that some mutations might cause sex reversal in the absence...

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Source

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Identifiers

PMID: 8880588
DOI: 10.1136/jmg.33.9.800
PMCID: PMC1050742

Genes

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

Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation.PMID 8880588Read ↗

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

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

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

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.Semantic proximity Read ↗

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

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

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

Heterozygous deletion of Sox9 in mouse mimics the gonadal sex reversal phenotype associated with campomelic dysplasia in humans.Semantic proximity Read ↗

A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal.Semantic proximity Read ↗

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

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