Genotype-Phenotype Correlations in Recessive Dystrophic Epidermolysis Bullosa
In this systematic review, the type and site of pathogenic variants in COL7A1 correlated with the severity of RDEB phenotype across different nationalities, races, and ethnicities. These findings may provide improved patient prognosis, genetic counseling, and personalized therapeutics.
Authors
- C. Hsu
- Fatima Al Ali (ORCID: https://orcid.org/0000-0001-6451-7357)
- J. Mitchell McGrath (ORCID: https://orcid.org/0000-0002-7365-9901)
- Su M. Lwin (ORCID: https://orcid.org/0000-0002-3325-3675)
- M. Antoniou
- Jemima E. Mellerio (ORCID: https://orcid.org/0000-0002-2670-8117)
- Ping-Chen Hou
- Kavita S. Subramaniam
- Aimée Longmore
- Lidia Shafik
- Cara Heppell
Institutions
- National Health Service (GB)
- King's College London (GB)
- Guy's and St Thomas' NHS Foundation Trust (GB)
- University of Oxford (GB)
- King's College School (GB)
- National Cheng Kung University Hospital (TW)
Publication Details
- Journal
- JAMA Dermatology
- Published
- 2026-02-04
- DOI
- https://doi.org/10.1001/jamadermatol.2025.5723
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00