Associated Papers
Mutation spectrum in a cohort with familial exudative vitreoretinopathy.
Qu N et al.
Molecular Genetics & Genomic Medicine, 2022
Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.
Wawrzynski J et al.
Frontiers in Genetics, 2022
35651932 (PubMed )
Supplement: DataSheet1.XLSX › Sheet1
Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.
Iarossi G et al.
Journal of Ophthalmology, 2017
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.
Wu JH et al.
Human Molecular Genetics, 2016
Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.
Lin P et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2010
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