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Article

Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.

The Journal of investigative dermatology - 1 Jun 2014

Eytan Ori, Fuchs-Telem Dana, Mevorach Baruch, Indelman Margarita, Bergman Reuven, Sarig Ofer, Goldberg Ilan, Adir Noam, Sprecher Eli

Abstract excerpt

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Topics

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Share to Genes, Dominant
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Share to Keratinocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Keratoderma, Palmoplantar

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Source

Identifiers

PMID: 24463422
DOI: 10.1038/jid.2014.37

Genes

TRPV3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.PMID 24463422Read ↗

Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3.Semantic proximity Read ↗

Genotype‒Phenotype Correlation of TRPV3-Related Olmsted SyndromeSemantic proximity Read ↗

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted SyndromeSemantic proximity Read ↗

TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes.Semantic proximity Read ↗

A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome.Semantic proximity Read ↗

A New <i>TRPV3</i> Missense Mutation in a Patient With Olmsted Syndrome and ErythromelalgiaSemantic proximity Read ↗

Two familial cases of Olmsted-like syndrome with a G573V mutation of the TRPV3 gene.Semantic proximity Read ↗

TRPV3: time to decipher a poorly understood family member!Semantic proximity Read ↗

A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.Semantic proximity Read ↗

TRPV3 Ion Channel: From Gene to PharmacologySemantic proximity Read ↗

Expanding the Phenotypic Spectrum of Olmsted SyndromeSemantic proximity Read ↗

The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence.Semantic proximity Read ↗

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