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Article

Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.

The Journal of clinical investigation - 1 Aug 2006

Hafner Christian, van Oers Johanna M M, Vogt Thomas, Landthaler Michael, Stoehr Robert, Blaszyk Hagen, Hofstaedter Ferdinand, Zwarthoff Ellen C, Hartmann Arndt

Abstract excerpt

Epidermal nevi are common congenital skin lesions with an incidence of 1 in 1,000 people; however, their genetic basis remains elusive. Germline mutations of the FGF receptor 3 (FGFR3) cause autosomal dominant skeletal disorders such as achondroplasia and thanatophoric dysplasia, which can be associated with acanthosis nigricans of the skin. Acanthosis nigricans and common epidermal nevi of the nonorganoid,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16841094
DOI: 10.1172/JCI28163
PMCID: PMC1501112

Genes

FGFR3

Variants

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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