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Article

A common FGFR3 gene mutation in hypochondroplasia.

Human molecular genetics - 1 Nov 1995

Prinos P, Costa T, Sommer A, Kilpatrick M W, Tsipouras P

Abstract excerpt

Hypochondroplasia is a genetic disorder of disproportionate short stature. Linkage analysis provisionally placed hypochondroplasia in the chromosome 4p 16.3 region, a location to which the FGFR3 gene has been mapped. The genotyping of a three-generation family showed no recombinants between the hypochondroplasia phenotype and three highly polymorphic markers flanking the FGFR3 gene. Mutation analysis was...

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Identifiers

PMID: 8589686
DOI: 10.1093/hmg/4.11.2097

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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