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Article

A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.

Nature genetics - 1 Jun 1994

Preston R A, Post J C, Keats B J, Aston C E, Ferrell R E, Priest J, Nouri N, Losken H W, Morris C A, Hurtt M R

Abstract excerpt

Crouzon craniofacial dysostosis (CFD) is an autosomal dominant craniofacial disorder characterized by premature craniosynostosis, shallow orbits and hypoplastic maxilla. To map the gene responsible, we have used a mapping strategy of testing for linkage to known developmental genes. Analysis of a large kindred established linkage between CFD and three loci (D10S190, D10S209 and D10S216) that span a 13 cM region...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 10
Craniofacial Dysostosis
Female
Genes, Dominant
Genetic Linkage
Genetic Markers
Humans
Lod Score
Male
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Source

Identifiers

PMID: 7920632
DOI: 10.1038/ng0694-149

Genes

CFD
PAX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7920632-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.PMID 7920632Read ↗

Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.Semantic proximity Read ↗

No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.Semantic proximity Read ↗

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