Work

A novel CEP78 variant and rod-cone dystrophy in non-consanguineous siblings

Year: 2026

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2026.2652568

Authors: Dominic S. Ting, Graham E. Holder, Melissa C. Tien, Karen J. Chia, Chia Wei Lim, Wei Kiong Ngo

Institutions: Tan Tock Seng Hospital, National Healthcare Group, National University of Singapore, National University Hospital, Nanyang Technological University, Singapore Eye Research Institute, Hebei Eye Hospital

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: W7154592328

FWCI:

Cites: 14

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