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

Research output: Contribution to journalArticlepeer-review

31 Scopus citations
Original languageEnglish (US)
Pages (from-to)244-249
Number of pages6
JournalJournal of Investigative Dermatology
Volume139
Issue number1
DOIs
StatePublished - 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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