Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

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

doi:10.1111/bjd.16797

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

V K Yenamandra, P C van den Akker, H H Lemmink, S Z Jan, G F H Diercks, M Vermeer, M P van den Berg, P van der Meer, A M G Pasmooij, R J Sinke, M F Jonkman, M C Bolling

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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.

Originele taal-2	English
Pagina's (van-tot)	1181-1183
Aantal pagina's	3
Tijdschrift	The British journal of dermatology
Volume	179
Nummer van het tijdschrift	5
DOI's	https://doi.org/10.1111/bjd.16797
Status	Published - nov.-2018

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Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24Final publisher's version, 400 KBLicentie: CC BY

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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. (2018). Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24. The British journal of dermatology, 179(5), 1181-1183. https://doi.org/10.1111/bjd.16797

@article{8d6473040ee04e06bc8bd0c5cba9026a,

title = "Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24",

abstract = "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.",

keywords = "SKIN FRAGILITY",

author = "Yenamandra, {V K} and {van den Akker}, {P C} and Lemmink, {H H} and Jan, {S Z} and Diercks, {G F H} and M Vermeer and {van den Berg}, {M P} and {van der Meer}, P and Pasmooij, {A M G} and Sinke, {R J} and Jonkman, {M F} and Bolling, {M C}",

year = "2018",

month = nov,

doi = "10.1111/bjd.16797",

language = "English",

volume = "179",

pages = "1181--1183",

journal = "The British journal of dermatology",

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T1 - Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

AU - Yenamandra, V K

AU - van den Akker, P C

AU - Lemmink, H H

AU - Jan, S Z

AU - Diercks, G F H

AU - Vermeer, M

AU - van den Berg, M P

AU - van der Meer, P

AU - Pasmooij, A M G

AU - Sinke, R J

AU - Jonkman, M F

AU - Bolling, M C

PY - 2018/11

Y1 - 2018/11

N2 - 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.

AB - 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.

KW - SKIN FRAGILITY

U2 - 10.1111/bjd.16797

DO - 10.1111/bjd.16797

M3 - Letter

C2 - 29779254

SN - 0007-0963

VL - 179

SP - 1181

EP - 1183

JO - The British journal of dermatology

JF - The British journal of dermatology

IS - 5

ER -

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

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