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Article

Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?

Pediatric neurology - 1 Apr 2014

Romeo Antonino, Lodi Monica, Viri Maurizio, Parente Eliana, Baldi Maurizia, Righini Andrea, Milani Donatella

Abstract excerpt

BACKGROUND: Hypochondroplasia is a rare skeletal dysplasia characterized by disproportionately short stature, lumbar lordosis, and limited extension of the elbow caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that plays a role in controlling nervous system development. Hypochondroplasia with FGFR3 mutation associated with bilateral medial temporal lobe anomalies and focal epilepsy was...

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Source

Identifiers

PMID: 24630288
DOI: 10.1016/j.pediatrneurol.2014.01.004

Genes

FGFR3

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