Work

Identification of a novel CABP4 frameshift variant and a secondary USH2A missense variant in congenital cone-rod synaptic disorder

Year: 2025

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2025.2573118

Authors: Zahraa Mousawi, Alain Chebly, Joseph Nehme, José-Noel Ibrahim, Charles Helou, Christina Zeitz, Said El Shamieh

Institutions: Beirut Arab University, Saint Joseph University, Holy Spirit University of Kaslik, Lebanese American University, Institut de la Vision

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: W4415454637

FWCI:

Cites: 14

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