KLHL24: Beyond Skin Fragility

Maria C. Bolling, Marcel F. Jonkman*

*Corresponding author for this work

    Research output: Contribution to journalEditorialAcademicpeer-review

    4 Citations (Scopus)

    Abstract

    KLHL24 mutations have recently been associated with epidermolysis bullosa simplex. Initial studies focused on skin fragility. However, the picture of KLHL24 mutations causing extracutaneous human disease is emerging, with dilated cardiomyopathy as a strong association. In addition, neurological disease is suspected as well. Careful clinical follow-up and functional studies of (mutated) KLHL24 in these tissues are needed.

    Original languageEnglish
    Pages (from-to)22-24
    Number of pages3
    JournalJournal of Investigative Dermatology
    Volume139
    Issue number1
    DOIs
    Publication statusPublished - Jan-2019

    Keywords

    • MUTATIONS

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