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Article

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

The Journal of investigative dermatology - 1 Mar 2015

He Yuqing, Zeng Kang, Zhang Xibao, Chen Qiaolin, Wu Jiang, Li Hong, Zhou Yong, Glusman Gustavo, Roach Jared, Etheridge Alton, Qing Shizhen, Tian Qiang, Lee Inyoul, Tian Xin, Wang Xiaoning, Wu Zhihua, Hood Leroy, Ding Yuanlin, Wang Kai

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Identifiers

PMID: 25285920
DOI: 10.1038/jid.2014.429

Genes

TRPV3

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

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A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.PMID 25285920Read ↗

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

Role of TRPV4 in skeletal function and its mutant-mediated skeletal disorders.Semantic proximity Read ↗

Novel TRPV4 mutation in a large Chinese family with congenital distal spinal muscular atrophy, skeletal dysplasia and scaly skin.Semantic 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 ↗

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

AQP5 pathogenic variants induce palmoplantar keratoderma Bothnia type in two Chinese families.Semantic proximity Read ↗

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