Work

Absent cone function and stable ophthalmic features in a non-syndromic woman with pathogenic variants in CEP290

Year: 2026

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2026.2692063

Authors: Samet Gulkas, Ines Fenniri, Hanna De Bruyn, Angela Brown, Jacklyn Omorodion, Pablo Altschwager, Anne B. Fulton

Institutions: Boston Children's Hospital, The Ohio State University, Harvard University

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: W7165915595

FWCI:

Cites: 17

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