Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24Yenamandra, 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 journal › Letter › Academic › peer-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.
|Number of pages||3|
|Journal||The British journal of dermatology|
|Publication status||Published - Nov-2018|
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