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Article

A New <i>TRPV3</i> Missense Mutation in a Patient With Olmsted Syndrome and Erythromelalgia

22 Jan 2014

Abstract excerpt

IMPORTANCE: Olmsted syndrome (OS) is a rare keratinizing disorder characterized by excessive epidermal thickening of the palms and soles, with clinical and genetic heterogeneity. Approximately 50 cases have been reported, with the molecular basis described in only 9. Recently, TRPV3 (transient receptor potential vanilloid 3) mutations were identified in autosomal-dominant OS in 7 sporadic cases and 1 familial...

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PMID: 24452206
DOI: 10.1001/jamadermatol.2013.8709

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Related research

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Research trail→

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A New <i>TRPV3</i> Missense Mutation in a Patient With Olmsted Syndrome and ErythromelalgiaPMID 24452206Read ↗

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Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.Semantic proximity Read ↗

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