Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa.
Saved in:
| Title: | Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa. |
|---|---|
| Authors: | Tawfik CA; Department of Ophthalmology, Ain Shams University, Cairo, Egypt.; Ocular Genetics Service, Al Mashreq Eye Center, Cairo, Egypt., Essawi ML; Department of Medical Molecular Genetics, National Research Center, Cairo, Egypt.; Center of Excellence for Human Genetics, National Research Center, Cairo, Egypt., Nowara M; Ocular Genetics Service, Al Mashreq Eye Center, Cairo, Egypt.; Department of Ophthalmology, Electricity hospital, Cairo, Egypt., Mohsen R; Department of Ophthalmology, Ain Shams University, Cairo, Egypt., Elbagoury NM; Department of Medical Molecular Genetics, National Research Center, Cairo, Egypt.; Center of Excellence for Human Genetics, National Research Center, Cairo, Egypt. |
| Source: | Ophthalmic genetics [Ophthalmic Genet] 2025 Jun; Vol. 46 (3), pp. 305-312. Date of Electronic Publication: 2025 Mar 05. |
| Publication Type: | Journal Article; Case Reports; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1744-5094 |
|---|---|
| DOI: | 10.1080/13816810.2025.2473972 |
