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Article

Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.

American journal of medical genetics. Part A - 1 Jul 2018

Chang Irene J, Sun Angela, Bouchard Maryse L, Kamps Shawn E, Hale Susan, Done Stephen, Goldberg Michael J, Glass Ian A

Abstract excerpt

Pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene are responsible for a broad spectrum of skeletal dysplasias, including achondroplasia (ACH). The classic phenotype of ACH is caused by two highly prevalent mutations, c.1138G > A and c.1138G > C (p.Gly380Arg). In the homozygous state, these variant results in a severe skeletal dysplasia, neurologic deficits, and early demise from...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 3

Source

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Identifiers

PMID: 30160829
DOI: 10.1002/ajmg.a.38839
PMCID: PMC6121735

Genes

FGFR3

Variants

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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