Publication

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

Yenamandra, V. K., van den Akker, P. C., Lemmink, H. H., Jan, S. Z., Diercks, G. F. H., Vermeer, M., van den Berg, M. P., van der Meer, P., Pasmooij, A. M. G., Sinke, R. J., Jonkman, M. F. & Bolling, M. C., Nov-2018, In : The British journal of dermatology. 179, 5, p. 1181-1183 3 p.

Research output: Contribution to journalLetterAcademicpeer-review

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
Volume179
Issue number5
Publication statusPublished - Nov-2018

    Keywords

  • SKIN FRAGILITY

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