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

Pediatrics

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

11 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

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Dermatology
Cell Biology

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10.1016/j.jid.2018.07.022

Cite this

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

Schwieger-Briel, Agnes ; Fuentes, Ignacia ; Castiglia, Daniele ; Barbato, Antonio ; Greutmann, Matthias ; Leppert, Juna ; Duchatelet, Sabine ; Hovnanian, Alain ; Burattini, Sofia ; Yubero, M. Joao ; Ibañez-Arenas, Rodrigo ; Rebolledo-Jaramillo, Boris ; Gräni, Christoph ; Ott, Hagen ; Theiler, Martin ; Weibel, Lisa ; Paller, Amy S. ; Zambruno, Giovanna ; Fischer, Judith ; Palisson, Francis ; Has, Cristina. / Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy. In: Journal of Investigative Dermatology. 2019 ; Vol. 139, No. 1. pp. 244-249.

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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)",

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journal = "Journal of Investigative Dermatology",

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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

Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy. / Schwieger-Briel, Agnes; Fuentes, Ignacia; Castiglia, Daniele; Barbato, Antonio; Greutmann, Matthias; Leppert, Juna; Duchatelet, Sabine; Hovnanian, Alain; Burattini, Sofia; Yubero, M. Joao; Ibañez-Arenas, Rodrigo; Rebolledo-Jaramillo, Boris; Gräni, Christoph; Ott, Hagen; Theiler, Martin; Weibel, Lisa; Paller, Amy S.; Zambruno, Giovanna; Fischer, Judith; Palisson, Francis; Has, Cristina.

In: Journal of Investigative Dermatology, Vol. 139, No. 1, 01.2019, p. 244-249.

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

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

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EP - 249

JO - Journal of Investigative Dermatology

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