Ophthalmic phenotype associated with a novel mutation in LAMB3 gene linked to uncommon Intermediate Junctional Epidermolysis Bullosa
The ocular, dental, and dermal findings support a diagnosis of EB, highlighting the importance of multidisciplinary evaluation. Identification of this novel <i>LAMB3</i> variant expands the known genotypic spectrum of JEB and enhances understanding of its molecular basis. This contributes to accurate diagnosis and improved genetic counseling for affected families.
Authors
- Nouf Abdulkalq Alzendi
- Naif A. M. Almontashiri (ORCID: https://orcid.org/0000-0003-3607-395X)
- Khaled K. Abu‐Amero (ORCID: https://orcid.org/0000-0003-3067-8966)
- Khawlah A. Alzaben (ORCID: https://orcid.org/0000-0002-9870-5345)
- Amani AlBakri (ORCID: https://orcid.org/0000-0002-8081-421X)
- Rawan S. Alshabeeb
Institutions
- King Khaled Eye Specialist Hospital (SA)
Publication Details
- Journal
- American Journal of Ophthalmology Case Reports
- Published
- 2025-12-10
- DOI
- https://doi.org/10.1016/j.ajoc.2025.102498
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00