Case Report of Schöpf–Schulz–Passarge Syndrome Resulting from a Missense Mutation, p.Arg104Cys, in WNT10A

    December 2017 in “ The Journal of Dermatology ”
    Tzu Chien Hsu, Julia Yu Yun Lee, Mark Ming Long Hsu, Sheau Chiou Chao
    Studysummary This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.
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    Research cited in this study 1

    1. WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes American journal of human genetics · 2009