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Article

FGFR3 mutations and medial temporal lobe dysgenesis.

Journal of child neurology - 1 Feb 2007

Kannu Peter, Aftimos Salim

Abstract excerpt

The authors describe a child who has hypochondroplasia due to an N540K mutation and who has medial temporal lobe dysgenesis. This association has been reported only twice before. FGFR3 is expressed in the brain during development and plays a role in hippocampal formation, and FGFR3 mutations could cause cerebral malformations in hypochondroplasia. Further neuroimaging studies of patients with hypochondroplasia...

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Source

Identifiers

PMID: 17621485
DOI: 10.1177/0883073807300292

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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