Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy
Journal
Journal of Investigative Dermatology
ISSN
0022-202X
Date Issued
2019
Author(s)
Agnes Schwieger-Briel
Daniele Castiglia
Antonio Barbato
Matthias Greutmann
Juna Leppert
Sabine Duchatelet
Alain Hovnanian
Sofia Burattini
M. Joao Yubero
Rodrigo Ibañez-Arenas
Christoph Gräni
Hagen Ott
Martin Theiler
Lisa Weibel
Amy S. Paller
Giovanna Zambruno
Judith Fischer
Cristina Has
Type
Resource Types::text::journal::journal article
URL Institutional Repository
Subjects
heart
;
adolescent
;
adult
;
cardiomyopathy, dilated
;
child
;
dna
;
dna mutational analysis
;
epidermolysis bullosa simplex
;
female
;
humans
;
male
;
middle aged
;
mutation
;
pedigree
;
repressor proteins
;
young adult
;
amino terminal pro brain natriuretic peptide
;
biological marker
;
creatine kinase
;
klhl24 protein
;
protein
;
unclassified drug
;
dna
;
kelch-like protein 24, human
;
repressor protein
;
adolescent
;
adult
;
article
;
cardiovascular magnetic resonance
;
child
;
clinical article
;
cohort analysis
;
congestive cardiomyopathy
;
coronary artery disease
;
creatine kinase blood level
;
disease association
;
echocardiography
;
epidermolysis bullosa simplex
;
female
;
gain of function mutation
;
genetic association
;
heart left ventricle ejection fraction
;
human
;
male
;
photography
;
preschool child
;
priority journal
;
protein expression
;
school child
;
complication
;
congestive cardiomyopathy
;
dna mutational analysis
;
epidermolysis bullosa simplex
;
genetics
;
metabolism
;
middle aged
;
mutation
;
pedigree
;
young adult