Identification of Compound Heterozygous Mutations in AP1B1 Leading to the Newly Described Recessive Keratitis–Ichthyosis–Deafness (KIDAR) Syndrome

    January 2021 in “ British Journal of Dermatology
    Julia Vornweg, Sven Gläser, M. Ahmad‐Anwar, Andreas Zimmer, Marius Kuhn, Steffen Hörer, Georg Christoph Korenke, Julia Grothaus, Hagen Ott, Judith Fischer
    Studysummary This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.
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