Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa
Functional genotype categories are a feasible approach to risk-stratify patients based on predicted C7 function.
Authors
- Anne W. Lucky (ORCID: https://orcid.org/0000-0002-6115-7584)
- Mélissa Saber
- Amy S. Paller (ORCID: https://orcid.org/0000-0001-6187-6549)
- Emily S. Gorell (ORCID: https://orcid.org/0000-0002-2813-3089)
- Jodi So (ORCID: https://orcid.org/0000-0002-4395-2752)
- Karen Wiss (ORCID: https://orcid.org/0000-0002-7753-6503)
- Anthony E. Oro (ORCID: https://orcid.org/0000-0002-6261-138X)
- Jean Y. Tang (ORCID: https://orcid.org/0000-0002-5510-6502)
- Anna L. Bruckner (ORCID: https://orcid.org/0000-0002-2035-4127)
- María Teresa García‐Romero (ORCID: https://orcid.org/0000-0002-1408-8109)
- Vaishali Mittal (ORCID: https://orcid.org/0009-0002-9486-889X)
- Catherine McCuaïg (ORCID: https://orcid.org/0000-0003-0792-6247)
- M. Peter Marinkovich (ORCID: https://orcid.org/0000-0001-5528-8046)
- Nicole Harris (ORCID: https://orcid.org/0000-0002-5176-2932)
- Irene Lara‐Corrales (ORCID: https://orcid.org/0000-0002-3210-3413)
- Jaron Nazaroff (ORCID: https://orcid.org/0000-0002-4267-6776)
- Lawrence F. Eichenfield (ORCID: https://orcid.org/0000-0002-2760-0474)
- Elena Pope (ORCID: https://orcid.org/0000-0002-2136-5661)
- Moise L. Levy (ORCID: https://orcid.org/0000-0002-8605-0935)
- Kimberly D. Morel (ORCID: https://orcid.org/0000-0003-0646-8192)
- Pirunthan Pathmarajah (ORCID: https://orcid.org/0000-0002-9395-5935)
- Edward Eid (ORCID: https://orcid.org/0000-0002-9355-2474)
- Marissa J. Perman (ORCID: https://orcid.org/0000-0002-6780-8157)
- Shufeng Li (ORCID: https://orcid.org/0000-0001-6031-0893)
- Kathleen Peoples
Institutions
- Northwestern University (US)
- Cincinnati Children's Hospital Medical Center (US)
- Children's Hospital of Philadelphia (US)
- University of Massachusetts Chan Medical School (US)
- University of Toronto (CA)
- Columbia University Irving Medical Center (US)
- Veterans Health Administration (US)
- Hospital for Sick Children (CA)
- University of California San Diego (US)
- Rady Children's Hospital-San Diego (US)
- Children's Hospital Colorado (US)
- Dell Children's Medical Center of Central Texas (US)
- SickKids Foundation (CA)
- Instituto Nacional de Pediatria (MX)
- Université de Montréal (CA)
- University of Pennsylvania (US)
- University of Colorado Denver (US)
- Stanford University (US)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-01-10
- DOI
- https://doi.org/10.1093/bjd/ljaf015
- Citations
- 2
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 2.30
Funders
- Georgia Clinical and Translational Science Alliance
- National Institutes of Health
- National Center for Advancing Translational Sciences