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Article

An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation.

American journal of medical genetics. Part A - 1 Sept 2008

García-Vargas Alejandro, Hafner Christian, Pérez-Rodríguez Adriana G, Rodríguez-Rojas L Ximena, González-Esqueda Pedro, Stoehr Robert, Hernández-Torres Mercedes, Happle Rudolf

Abstract excerpt

A 5-year-old Mexican girl had a bilateral, systematized epidermal nevus of a non-epidermolytic, non-organoid type covering large parts of her body with the exception of the scalp. Clinically, this nevus was of a soft, velvety type showing affinity to the large body folds. Histopathological examination revealed orthohyperkeratosis and papillomatosis without granular degeneration and without any abnormality of...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Intellectual Disability

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Share to Nevus, Pigmented

Share to Receptor, Fibroblast Growth Factor, Type 3

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Source

Identifiers

PMID: 18642369
DOI: 10.1002/ajmg.a.32429

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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