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Article

Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3.

The British journal of dermatology - 1 Jan 2016

Agarwala M K, George R, Pramanik R, McGrath J A

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25989441
DOI: 10.1111/bjd.13910

Genes

TRPV3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3.PMID 25989441Read ↗

Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.Semantic proximity Read ↗

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

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

De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.Semantic proximity Read ↗

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

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

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.Semantic proximity Read ↗

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

TRPV3 Ion Channel: From Gene to PharmacologySemantic proximity Read ↗

Variants in KAT6A and pituitary anomalies.Semantic proximity Read ↗

Expanding the Phenotypic Spectrum of Olmsted SyndromeSemantic proximity Read ↗

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

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