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Article

Fibroblast growth factor receptor 3 and the human chondrodysplasias.

Current opinion in pediatrics - 1 Aug 1997

Horton W A

Abstract excerpt

Heterozygous mutations of the gene encoding the fibroblast growth factor receptor 3 (FGFR3) have been found in persons with achondroplasia, thanatophoric dysplasia, and hypochondroplasia. They exhibit considerable genetic homogeneity, and specific mutations strongly correlate with the clinical severity of disease. The mutations activate the FGFR3 by promoting dimerization, by stimulating intrinsic tyrosine kinase...

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Source

Identifiers

PMID: 9300204
DOI: 10.1097/00008480-199708000-00021

Genes

FGFR3

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Fibroblast growth factor receptor 3 and the human chondrodysplasias.PMID 9300204Read ↗

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Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.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 ↗

New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling.Semantic proximity Read ↗

Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.Semantic proximity Read ↗

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Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias.Semantic proximity Read ↗

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