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Article

Genetic study of SOX9 in a case of campomelic dysplasia.

American journal of medical genetics - 15 Jan 2001

Giordano J, Prior H M, Bamforth J S, Walter M A

Abstract excerpt

Campomelic dysplasia (CD) is a sporadic autosomal dominant syndrome that results in skeletal malformation and developmental abnormalities. Death usually occurs neonatally as a result of respiratory insufficiencies, but life expectancy varies depending on the severity of the phenotype. XY sex reversal is common in CD, and a range of genital defects is observed in males and females. CD is due to mutations in SOX9,...

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Share to Chromosomes, Human, Pair 17
Share to Gonadal Dysgenesis, 46,XY
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 11223854
DOI: 10.1002/1096-8628(20010115)98:2<176::aid-ajmg1027>3.0.co;2-q

Genes

SOX9
SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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Genetic study of SOX9 in a case of campomelic dysplasia.PMID 11223854Read ↗

Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia.Semantic proximity Read ↗

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 ↗

Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.Semantic proximity Read ↗

Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasiaSemantic proximity Read ↗

Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.Semantic proximity Read ↗

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX 9Semantic proximity Read ↗

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.Semantic proximity Read ↗

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

Acampomelic campomelic syndrome.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 ↗

Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.Semantic proximity Read ↗

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