Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy

Agnes Schwieger-Briel; Ignacia Fuentes; Daniele Castiglia; Antonio Barbato; Matthias Greutmann; Juna Leppert; Sabine Duchatelet; Alain Hovnanian; Sofia Burattini; M. Joao Yubero; Rodrigo Ibañez-Arenas; Boris Rebolledo-Jaramillo; Christoph Gräni; Hagen Ott; Martin Theiler; Lisa Weibel; Amy S. Paller; Giovanna Zambruno; Judith Fischer; Francis Palisson; Cristina Has

doi:10.1016/j.jid.2018.07.022

Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy

Agnes Schwieger-Briel^*, Ignacia Fuentes, Daniele Castiglia, Antonio Barbato, Matthias Greutmann, Juna Leppert, Sabine Duchatelet, Alain Hovnanian, Sofia Burattini, M. Joao Yubero, Rodrigo Ibañez-Arenas, Boris Rebolledo-Jaramillo, Christoph Gräni, Hagen Ott, Martin Theiler, Lisa Weibel, Amy S. Paller, Giovanna Zambruno, Judith Fischer, Francis PalissonCristina Has

^*Corresponding author for this work

Dermatology

Research output: Contribution to journal › Article › peer-review

31 Scopus citations

Original language	English (US)
Pages (from-to)	244-249
Number of pages	6
Journal	Journal of Investigative Dermatology
Volume	139
Issue number	1
DOIs	https://doi.org/10.1016/j.jid.2018.07.022
State	Published - Jan 2019

Funding

We thank the patients and their families for participation in this study. Gabriele Grüninger is acknowledged for expert technical assistance. Most of this study was supported by Debra International (HAS 1 CH) and the Chilean whole-exome sequencing data analysis by the CONICYT FONDEQUIP EQM150093 and EQM140157.

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Dermatology
Cell Biology

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10.1016/j.jid.2018.07.022

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Schwieger-Briel, A., Fuentes, I., Castiglia, D., Barbato, A., Greutmann, M., Leppert, J., Duchatelet, S., Hovnanian, A., Burattini, S., Yubero, M. J., Ibañez-Arenas, R., Rebolledo-Jaramillo, B., Gräni, C., Ott, H., Theiler, M., Weibel, L., Paller, A. S., Zambruno, G., Fischer, J., ... Has, C. (2019). Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy. Journal of Investigative Dermatology, 139(1), 244-249. https://doi.org/10.1016/j.jid.2018.07.022

@article{a26e55c19dd947c191b497762a80e40e,

title = "Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy",

author = "Agnes Schwieger-Briel and Ignacia Fuentes and Daniele Castiglia and Antonio Barbato and Matthias Greutmann and Juna Leppert and Sabine Duchatelet and Alain Hovnanian and Sofia Burattini and Yubero, \{M. Joao\} and Rodrigo Iba{\~n}ez-Arenas and Boris Rebolledo-Jaramillo and Christoph Gr{\"a}ni and Hagen Ott and Martin Theiler and Lisa Weibel and Paller, \{Amy S.\} and Giovanna Zambruno and Judith Fischer and Francis Palisson and Cristina Has",

note = "Funding Information: We thank the patients and their families for participation in this study. Gabriele Gr{\"u}ninger is acknowledged for expert technical assistance. Most of this study was supported by Debra International (HAS 1 CH) and the Chilean whole-exome sequencing data analysis by the CONICYT FONDEQUIP EQM150093 and EQM140157. ",

year = "2019",

month = jan,

doi = "10.1016/j.jid.2018.07.022",

language = "English (US)",

volume = "139",

pages = "244--249",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Elsevier B.V.",

number = "1",

}

Schwieger-Briel, A, Fuentes, I, Castiglia, D, Barbato, A, Greutmann, M, Leppert, J, Duchatelet, S, Hovnanian, A, Burattini, S, Yubero, MJ, Ibañez-Arenas, R, Rebolledo-Jaramillo, B, Gräni, C, Ott, H, Theiler, M, Weibel, L, Paller, AS, Zambruno, G, Fischer, J, Palisson, F & Has, C 2019, 'Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy', Journal of Investigative Dermatology, vol. 139, no. 1, pp. 244-249. https://doi.org/10.1016/j.jid.2018.07.022

TY - JOUR

T1 - Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy

AU - Schwieger-Briel, Agnes

AU - Fuentes, Ignacia

AU - Castiglia, Daniele

AU - Barbato, Antonio

AU - Greutmann, Matthias

AU - Leppert, Juna

AU - Duchatelet, Sabine

AU - Hovnanian, Alain

AU - Burattini, Sofia

AU - Yubero, M. Joao

AU - Ibañez-Arenas, Rodrigo

AU - Rebolledo-Jaramillo, Boris

AU - Gräni, Christoph

AU - Ott, Hagen

AU - Theiler, Martin

AU - Weibel, Lisa

AU - Paller, Amy S.

AU - Zambruno, Giovanna

AU - Fischer, Judith

AU - Palisson, Francis

AU - Has, Cristina

N1 - Funding Information: We thank the patients and their families for participation in this study. Gabriele Grüninger is acknowledged for expert technical assistance. Most of this study was supported by Debra International (HAS 1 CH) and the Chilean whole-exome sequencing data analysis by the CONICYT FONDEQUIP EQM150093 and EQM140157.

PY - 2019/1

Y1 - 2019/1

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UR - http://www.scopus.com/inward/citedby.url?scp=85055018369&partnerID=8YFLogxK

U2 - 10.1016/j.jid.2018.07.022

DO - 10.1016/j.jid.2018.07.022

M3 - Article

C2 - 30120936

AN - SCOPUS:85055018369

SN - 0022-202X

VL - 139

SP - 244

EP - 249

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 1

ER -

Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy

Funding

ASJC Scopus subject areas

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