The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10

    September 2014 in “ JAMA dermatology
    I. Spoerri, Michela Brena, Julie De Mesmaeker, Nina Schlipf, Judith Fischer, Gianluca Tadini, Peter Itin, Bettina Burger
    Studysummary This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
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