Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24
| Autor: | Richard J. Sinke, Gilles F. H. Diercks, Maria C. Bolling, M.P. van den Berg, Sabrina Z. Jan, Anna M.G. Pasmooij, P. C. van den Akker, M. F. Jonkman, V. K. Yenamandra, Mathilde C.S.C. Vermeer, Henny H. Lemmink, P van der Meer |
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| Přispěvatelé: | Translational Immunology Groningen (TRIGR), Cardiovascular Centre (CVC), Restoring Organ Function by Means of Regenerative Medicine (REGENERATE) |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Genetics Mutation SKIN FRAGILITY business.industry Cardiomyopathy Dilated cardiomyopathy Dermatology medicine.disease medicine.disease_cause Phenotype Pathogenesis 030207 dermatology & venereal diseases 03 medical and health sciences Epidermolysis bullosa simplex 030104 developmental biology 0302 clinical medicine Medicine business Gene Exome sequencing |
| Zdroj: | The British journal of dermatology, 179(5), 1181-1183. Wiley |
| ISSN: | 1365-2133 0007-0963 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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