<i>ABCC6</i> gene mutational spectrum and ocular features in Mexican patients with pseudoxanthoma elasticum-related angioid streaks
In most subjects from our cohort, AS were due to genetically confirmed PXE, as previously observed in other ethnic groups. We expanded the <i>ABCC6</i>-related mutational spectrum by recognizing 7 previously unpublished pathogenic variants.
Authors
- Oscar F. Chacón‐Camacho (ORCID: https://orcid.org/0000-0001-6274-6041)
- Gerardo Ledesma‐Gil (ORCID: https://orcid.org/0000-0002-5882-5940)
- Vianey Ordoñez‐Labastida (ORCID: https://orcid.org/0000-0001-5544-3755)
- Juan Carlos Zenteno (ORCID: https://orcid.org/0000-0002-9716-8146)
- Jaime Francisco Rosales-Padrón
- Federico Graue‐Wiechers
Institutions
- Universidad Autónoma Monterrey (CR)
- Institute of Ophthalmology (MX)
- Universidad Autónoma del Estado de Morelos (MX)
- Universidad Nacional Autónoma de México (MX)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-03-05
- DOI
- https://doi.org/10.1080/13816810.2025.2473974
- Primary Topic
- Dermatological and Skeletal Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Velux Stiftung
- Consejo Nacional de Ciencia y Tecnología