Work

Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa

Year: 2025

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2025.2473972

Authors: Caroline Atef Tawfik, Mona Lotfi Essawi, Mohamed Nowara, Reem Mohsen, Nagham Maher Elbagoury

Institutions: Ain Shams University, Eye Center

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4408209488

FWCI: 0.51

Cites: 27

Cited by: 2

Related to: 10