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Article

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.

American journal of medical genetics. Part A - 1 Dec 2012

Linnankivi Tarja, Mäkitie Outi, Valanne Leena, Toiviainen-Salo Sanna

Abstract excerpt

Hypochondroplasia (HCH), an autosomal dominant skeletal dysplasia caused by mutations in the FGFR3 gene, has not been commonly associated with neurological problems. Temporal lobe dysgenesis associated with epilepsy was recently described in single patients. In this retrospective study, we assessed neurological and neuroimaging aspects of 13 FGFR3 (N540K) mutation verified HCH patients in Finland. Eight patients...

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Source

Identifiers

PMID: 23165795
DOI: 10.1002/ajmg.a.35642

Genes

FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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