Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband
Author:
Publisher
Elsevier BV
Subject
Ophthalmology,Pediatrics, Perinatology and Child Health
Reference9 articles.
1. Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein;Allen;Eye,2006
2. Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR;Riveiro-Alvarez;Mol Vis,2005
3. Norrie disease and exudative vitreoretinopathy in families with affected female carriers;Shastry;Eur J Ophthalmol,1999
4. Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin;Mintz-Hittner;Ophthalmology,1996
5. Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation;Khan;Ophthalmology,2008
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1. Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients;Molecular Genetics and Genomics;2024-03-13
2. Mutation spectrum in a cohort with familial exudative vitreoretinopathy;Molecular Genetics & Genomic Medicine;2022-07-25
3. NDP-related retinopathies: clinical phenotype of female carriers;British Journal of Ophthalmology;2022-03-31
4. The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies;Progress in Retinal and Eye Research;2021-05
5. Ocular manifestations of Norrie disease;Journal Français d'Ophtalmologie;2020-05
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