Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

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Dominant mutations in the KLHL24 gene, encoding for kelch-like protein 24, have been implicated in the pathogenesis of epidermolysis bullosa simplex (EBS). So far, 26 patients from different ethnicities have been reported and all of them harboured a heterozygous KLHL24 start-codon mutation, with c.1A>G;p.Met1? being the most prevalent.1-3 Through this report, we aimed to expand the phenotypic spectrum by incorporating additional findings, in particular, dilated cardiomyopathy, seen in a Dutch family. This article is protected by copyright. All rights reserved.

Original languageEnglish
Pages (from-to)1181-1183
Number of pages3
JournalThe British journal of dermatology
Issue number5
Publication statusPublished - Nov-2018



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