Genetic profiling of epidermolysis bullosa in a large Brazilian cohort
This study provides a comprehensive genetic overview of EB in Brazil, highlighting EB type prevalence and novel variants. This knowledge is crucial for genetic counselling, clinical management and the use of targeted therapies, and potentially benefits patients globally.
Authors
- Priscila Keiko Matsumoto Martin (ORCID: https://orcid.org/0000-0002-6009-2352)
- Luiza Monteavaro Mariath (ORCID: https://orcid.org/0000-0002-6626-934X)
- Jeanine Aparecida Magno
- Rosalie Matuk Fuentes Torrelio (ORCID: https://orcid.org/0000-0002-6159-4055)
- Lavínia Schüler‐Faccini (ORCID: https://orcid.org/0000-0002-2428-0460)
- Vanessa Ota (ORCID: https://orcid.org/0000-0003-0129-6360)
- J. Fernandes (ORCID: https://orcid.org/0009-0002-1304-956X)
- Luca Rossi (ORCID: https://orcid.org/0000-0001-6829-5229)
- Carolina Sayuri Arashiro
Institutions
- Universidade Federal do Rio Grande do Sul (BR)
- Hospital Israelita Albert Einstein (BR)
- Our Lady of the Lake Children's Hospital (US)
- Universidade Regional de Blumenau (BR)
- National Institute on Population Medical Genetics (BR)
- Hospital Estadual Centra (BR)
- Dystrophic Epidermolysis Bullosa Research Association of America (US)
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Clinical and Experimental Dermatology
- Published
- 2025-07-24
- DOI
- https://doi.org/10.1093/ced/llaf303
- Citations
- 1
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 1.15