Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene

Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic ‘gain-of-function‘ mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a...

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Detalles Bibliográficos
Autores principales: Choi, Ji Young, Kim, Song-Ee, Lee, Sang Eun, Kim, Soo-Chan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823840/
https://www.ncbi.nlm.nih.gov/pubmed/29436206
http://dx.doi.org/10.3349/ymj.2018.59.2.341

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823840/
https://www.ncbi.nlm.nih.gov/pubmed/29436206
http://dx.doi.org/10.3349/ymj.2018.59.2.341

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