Epidermolysis Bullosa Related to the KLHL24 Gene
Given the potential early onset and the rapid progression of EBS-KHLH24 cardiomyopathy, with the high risk of life-threatening arrhythmias and sudden cardiac death, routine cardiac screening at an early age is recommended.
Authors
- Rachele Adorisio (ORCID: https://orcid.org/0000-0002-9577-2155)
- Aurelio Secinaro (ORCID: https://orcid.org/0000-0002-2611-8061)
- Marianna Cicenia (ORCID: https://orcid.org/0000-0001-7577-6848)
- Sara Di Marzio (ORCID: https://orcid.org/0000-0002-4213-1709)
- Fabrizio Drago (ORCID: https://orcid.org/0000-0003-1888-373X)
- A. Diociauti
- Nicoletta Cantarutti (ORCID: https://orcid.org/0000-0001-9888-2395)
- Gessica Ingrasciotta (ORCID: https://orcid.org/0000-0001-8841-5902)
- May El Hachem (ORCID: https://orcid.org/0000-0002-8145-4797)
- Irma Battipaglia (ORCID: https://orcid.org/0000-0001-7851-8801)
Institutions
- Bambino Gesù Children's Hospital (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
Publication Details
- Journal
- JACC Case Reports
- Published
- 2025-11-20
- DOI
- https://doi.org/10.1016/j.jaccas.2025.106127
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00