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

    January 2018 in “ Yonsei Medical Journal
    Ji Young Choi, Song‐Ee Kim, Sang Eun Lee, Soo‐Chan Kim
    Studysummary This study reports the first case of Olmsted syndrome in a Korean patient, identifying a novel TRPV3 gene mutation, p.Gly568Val, associated with the condition.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Read the full study on eymj.org →
    Discuss this study in the Community →

    Research cited in this study 3

    1. Expanding The Phenotypic Spectrum Of Olmsted Syndrome Journal of Investigative Dermatology · 2015
    2. Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3 Journal of Investigative Dermatology · 2014
    3. Activation of Transient Receptor Potential Vanilloid-3 Inhibits Human Hair Growth ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2011