Expanding The Phenotypic Spectrum Of Olmsted Syndrome

    June 2015 in “ Journal of Investigative Dermatology ”
    Neil Wilson, Christian Cole, Leonard M. Milstone … Frances J.D. Smith
    Studysummary This study found that mutations in the TRPV3 gene can cause a broader range of symptoms in Olmsted syndrome than previously recognized, including severe palmoplantar keratoderma without other classic features.
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    Research cited in this study 1

    1. Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3 Journal of Investigative Dermatology · 2014