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Article

Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.

American journal of medical genetics. Part A - 1 Jul 2003

Grosso Salvatore, Farnetani Maria Angela, Berardi Rosario, Bartalini Gabriella, Carpentieri Marilisa, Galluzzi Paolo, Mostardini Rosa, Morgese Guido, Balestri Paolo

Abstract excerpt

Hypochondroplasia (HCH) and Muenke syndrome (MS) are caused by mutations on FGFR3 gene. FGFR3 is known to play a role in controlling nervous system development. We describe the clinical and neuroradiological findings of the first two patients, to our knowledge, affected by HCH and MS, respectively, in whom bilateral dysgenesis of the medial temporal lobe structures has been observed. In both patients diagnosis...

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Source

Identifiers

PMID: 12794698
DOI: 10.1002/ajmg.a.10171

Genes

FGFR3

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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