Expanding the Mutation Spectrum for Inherited Retinal Diseases
These results clarify and confirm clinical diagnoses, aid in counseling patients on prognosis and family planning, and guide treatment options. This study not only holds promise for affected individuals but also expands the mutation spectrum to guide understanding of IRD.
Authors
- Samuel J. Huang (ORCID: https://orcid.org/0000-0002-8464-8503)
- Razek Georges Coussa (ORCID: https://orcid.org/0000-0001-7121-8689)
- Lea D. Bennett (ORCID: https://orcid.org/0000-0002-4537-6445)
- Ronald Kingsley (ORCID: https://orcid.org/0000-0001-6453-4165)
- Jacob Lynn (ORCID: https://orcid.org/0000-0003-1807-1053)
- Grace K. Trigler
Institutions
- Dean McGee Eye Institute (US)
- University of Oklahoma Health Sciences Center (US)
Publication Details
- Journal
- Genes
- Published
- 2024-12-28
- DOI
- https://doi.org/10.3390/genes16010032
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- VitreoRetinal Surgery Foundation
- National Eye Institute