Novel Pathogenic Variants in IFT140 and IFT172 Genes in Three Patients with Similar Retinal Dystrophy Phenotypes
Novel variants in the <i>IFT140</i> and <i>IFT172</i> genes encoding the IFT complex may contribute to similar retinal dystrophy phenotypes, as noted in our case series.
Authors
- Jennifer Adeghate (ORCID: https://orcid.org/0000-0001-7713-3467)
- Talia R. Kaden (ORCID: https://orcid.org/0000-0001-6945-7664)
- Joshua A. Schwimmer
- Samantha R. Goldburg
- S. J. Bass
Institutions
- Northwell Health (US)
- Hofstra University (US)
- Medical College of Wisconsin (US)
- Manhattan Eye, Ear and Throat Hospital (US)
Publication Details
- Journal
- Case Reports in Ophthalmology
- Published
- 2025-03-26
- DOI
- https://doi.org/10.1159/000545390
- Citations
- 1
- Primary Topic
- interferon and immune responses
- Type
- article
- Field-Weighted Citation Impact
- 0.80