Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa
To the best of our knowledge, this is the first report of RP in a WS patient. We are reporting novel mutations in <i>PAX3</i> and <i>CFAP410</i> genes and expanding number of cases of non-syndromic retinal degeneration in <i>CFAP410</i>- associated retinopathy.
Authors
- Mona L. Essawi (ORCID: https://orcid.org/0000-0002-1067-8873)
- Caroline Atef Tawfik (ORCID: https://orcid.org/0000-0001-5856-2135)
- Nagham M. Elbagoury (ORCID: https://orcid.org/0000-0002-3826-9780)
- Mohamed Nowara (ORCID: https://orcid.org/0000-0001-5739-8847)
- Reem Mohsen (ORCID: https://orcid.org/0000-0003-1705-8068)
Institutions
- Ain Shams University (EG)
- Eye Center (SA)
- Kansai Electric Power Hospital (JP)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-03-05
- DOI
- https://doi.org/10.1080/13816810.2025.2473972
- Citations
- 2
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.61