Work

A novel PAX2 heterozygous mutation in a male with anterior segment dysgenesis, colobomatous optic nerves and atypical retinal findings: a case report

Year: 2025

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2025.2519747

Authors: C. Bourke, D.A. Thompson, M. Moosajee, I.C. Lloyd

Institutions: Great Ormond Street Hospital, Great Ormond Street Hospital for Children NHS Foundation Trust, University College London

Language: English

Topic: Ocular Disorders and Treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: NIHR Great Ormond Street Hospital Biomedical Research Centre

OpenAlex ID: W4411769036

FWCI:

Cites: 9

Cited by:

Related to: 10