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[Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia].

Annales d'endocrinologie - 1 Jan 1996

Rousseau F, Bonaventure J, Le Merrer M, Maroteaux P, Munnich A

Abstract excerpt

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Topics

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Share to Achondroplasia
Share to FGFR3 gene
Share to Mutation
Share to Osteochondrodysplasias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Protein-Tyrosine Kinases

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Receptors, Fibroblast Growth Factor

Share to Thanatophoric Dysplasia

Source

Identifiers

PMID: 8949408

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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[Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia].PMID 8949408Read ↗

FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients.Semantic proximity Read ↗

Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.Semantic proximity Read ↗

[From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor].Semantic proximity Read ↗

Review of published 467 achondroplasia patients: clinical and mutational spectrum.Semantic proximity Read ↗

[Fibroblast growth factor receptor and achondroplasia].Semantic proximity Read ↗

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.Semantic proximity Read ↗

[Achondroplasia, hypochondroplasia].Semantic proximity Read ↗

Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap.Semantic proximity Read ↗

[Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)].Semantic proximity Read ↗

Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.Semantic proximity Read ↗

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.Semantic proximity Read ↗

Achondroplasia-First Report from India of a Rare FGFR3 Gene Variant.Semantic proximity Read ↗

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