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Article

[Achondroplasia: molecular study of 28 patients].

Medicina clinica - 18 Apr 1998

Climent C, Lorda-Sánchez I, Urioste M, Gairi J M, Rodríguez J I, Rubio V

Abstract excerpt

BACKGROUND: The main goal of the study is to investigate in the Spanish population the value of searching for the Gly380Arg mutation in the transmembrane domain of fibroblast growth factor receptor-3 (FGFR3#) as the basis for the molecular diagnosis of achondroplasia. PATIENTS AND METHODS: Twenty...

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Source

Identifiers

PMID: 9611730

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9611730-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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[Achondroplasia: molecular study of 28 patients].PMID 9611730Read ↗

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.Semantic proximity Read ↗

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Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS.Semantic proximity Read ↗

Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia.Semantic proximity Read ↗

[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia].Semantic proximity Read ↗

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.Semantic proximity Read ↗

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