Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in   KLHL 24 | Zendy

Yenamandra V.K. | Zendy; Akker P.C. | Zendy; Lemmink H.H. | Zendy; Jan S.Z. | Zendy; Diercks G.F.H. | Zendy; Vermeer M. | Zendy; Berg M.P. | Zendy; Meer P. | Zendy; Pasmooij A.M.G. | Zendy; Sinke R.J. | Zendy; Jonkman M.F. | Zendy; Bolling M.C. | Zendy

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Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL 24

Author(s) -

Yenamandra V.K.,

Akker P.C.,

Lemmink H.H.,

Jan S.Z.,

Diercks G.F.H.,

Vermeer M.,

Berg M.P.,

Meer P.,

Pasmooij A.M.G.,

Sinke R.J.,

Jonkman M.F.,

Bolling M.C.

Publication year - 2018

Publication title -

british journal of dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.304

H-Index - 179

eISSN - 1365-2133

pISSN - 0007-0963

DOI - 10.1111/bjd.16797

Subject(s) - epidermolysis bullosa simplex , epidermolysis bullosa , medicine , cardiomyopathy , dermatology , heart failure

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.

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