Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.

The British journal of dermatology - 1 Nov 2018

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

Abstract excerpt

No abstract is available from the source.

Topics

Join the communities discussing this publication.

Cardiomyopathy, Dilated
Epidermolysis Bullosa Simplex
Exome Sequencing
Heart Transplantation
Keratinocytes
Microscopy, Electron

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myocytes, Cardiac

Source

Identifiers

PMID: 29779254
DOI: 10.1111/bjd.16797

Genes

KLHL24

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.PMID 29779254Read ↗

Cardiac transplant for epidermolysis bullosa simplex with KLHL24 mutation–associated cardiomyopathySemantic proximity Read ↗

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa SimplexSemantic proximity Read ↗

Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility Syndrome.Semantic proximity Read ↗

Cardiomyopathy in Duchenne muscular dystrophy: pathogenesis and therapeuticsSemantic proximity Read ↗

Cardiomyopathy with LMNA Mutation.Semantic proximity Read ↗

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24Semantic proximity Read ↗

KLHL24 mutation drives intermediate filament degradation, mitochondrial dysfunction and fibrosis in heart failure patients.Semantic proximity Read ↗

Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP.Semantic proximity Read ↗

Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation.Semantic proximity Read ↗

Rare variant mutations identified in pediatric patients with dilated cardiomyopathySemantic proximity Read ↗

A case of lamin A/C mutation cardiomyopathy with overlap features of ARVC: a critical role of genetic testing.Semantic proximity Read ↗

Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.