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Article

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

Nature - 15 Sept 1994

Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet J M, Maroteaux P, Le Merrer M, Munnich A

Abstract excerpt

Achondroplasia, the most common cause of chondrodysplasia in man (1 in 15,000 live births), is a condition of unknown origin characterized by short-limbed dwarfism and macrocephaly. More than 90% of cases are sporadic and there is an increased paternal age at the time of conception of affected individuals, suggesting that de novo mutations are of paternal origin. Affected individuals are fertile and...

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Identifiers

PMID: 8078586
DOI: 10.1038/371252a0

Genes

FGFR3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.PMID 8078586Read ↗

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Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism.Semantic proximity Read ↗

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