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Case report

First published 2023-7

Familial Exudative Vitreoretinopathy–Like Phenotype in a Patient With Microcephaly and TUBGCP6 Mutations

Jesse D. Sengillo, Noy Ashkenazy, Marissa K. Shoji [...]

Journal of VitreoRetinal Diseases

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Case report

First published 2015-12

Association of Autosomal Dominant Familial Exudative Vitreoretinopathy and Spinal Muscular Atrophy

Danny Mammo, Yoshihiro Yonekawa, Benjamin J. Thomas [...]

European Journal of Ophthalmology

Open access

Research article

First published 2023-9

Genetic and clinical characteristics of ZNF408-related familial exudative vitreoretinopathy

Xueying Tao, Liying He, Chao Cen [...]

Journal of International Medical Research

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Case report

First published 2026-3

Schisis-Like Presentations of Familial Exudative Vitreoretinopathy Caused by FZD4 Mutations

Serena Shah, Natasha Ferreira Santos da Cruz, Jesse Sengillo [...]

Journal of VitreoRetinal Diseases

Open access

Case report

First published 2026

Complex Retinal Detachment in an Adult Patient With Familial Exudative Vitreoretinopathy: Challenges in Diagnosis and Management

Chioma Amuzie, Gelila Yohannes, Jason Fan [...]

Journal of VitreoRetinal Diseases

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Case report

First published 2022-11

A novel variant in the TSPAN12 gene-presenting as unilateral myopia,pediatric cataract,and heterochromia in a patient with familial exudative vitreoretinopathy

Abdelrahman M Elhusseiny, Mireille Jabroun, Farrah Rajabi [...]

European Journal of Ophthalmology

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Case report

First published 2024-9

Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo

Hsin-Ho Chang, An-Guor Wang, Dau-Ming Niu [...]

European Journal of Ophthalmology

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Research article

First published 2019-12

A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family

Yun Bao, Jingmin Yang, Lu Chen [...]

Genetic Testing and Molecular Biomarkers

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Case report

First published 2020-3

Pathological Findings of Synchysis Scintillans Secondary to Familial Exudative Vitreoretinopathy With Chronic Exudative Retinal Detachment

James Lin, Armando Garcia, Ying Chen [...]

Journal of VitreoRetinal Diseases

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Research article

First published 1999

Norrie Disease and Exudative Vitreoretinopathy in Families with Affected Female Carriers

B.S. Shastry, M. Hiraoka, D.C. Trese [...]

European Journal of Ophthalmology

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