WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

    Axel Bohring, Thomas Stamm, Christiane Spaich, Claudia M. Haase, Kerstin Spree, Ute Hehr, Mandy Hoffmann, Susanne Ledig, Saadettin Sel, Peter Wieacker, Albrecht Röpke
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    Studysummary This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
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