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

Authors

José-Noël Ibrahim (ORCID: https://orcid.org/0000-0002-3507-0119)
Alain Chebly (ORCID: https://orcid.org/0000-0001-5582-2923)
Saïd El Shamieh (ORCID: https://orcid.org/0000-0002-8522-0445)
Charles Helou (ORCID: https://orcid.org/0000-0001-5549-9695)
Joseph Nehme (ORCID: https://orcid.org/0000-0002-4740-7663)
Zahraa Mousawi
Christina Zeitz

Institutions

Institut de la Vision (FR)
Saint Joseph University (LB)
Holy Spirit University of Kaslik (LB)
Beirut Arab University (LB)
Lebanese American University (LB)

Publication Details

Journal: Ophthalmic Genetics
Published: 2025-10-22
DOI: https://doi.org/10.1080/13816810.2025.2573118
Primary Topic: Genetic Neurodegenerative Diseases
Type: article
Field-Weighted Citation Impact: 0.00

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article

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

José-Noël Ibrahim, Alain Chebly, Saïd El Shamieh, Charles Helou et al.

Oct 22, 2025

Ophthalmic Genetics

Genetic Neurodegenerative Diseases

article

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

José-Noël Ibrahim, Alain Chebly, Saïd El Shamieh, Charles Helou, Joseph Nehme, Zahraa Mousawi, Christina Zeitz

October 22, 2025article en

Abstract

No abstract available for this paper.

Ophthalmic GeneticsVol. 47(1)

Institut de la Vision (FR), Saint Joseph University (LB), Holy Spirit University of Kaslik (LB), Beirut Arab University (LB), Lebanese American University (LB)

Openalex Percentile: Top 67%

Genetic Neurodegenerative Diseases

DOI Source OpenAlex

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