persistent hyperplastic primary vitreous/cysteine

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Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.

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OBJECTIVE To correlate the ophthalmic findings of patients with pediatric vitreoretinopathies with mutations occurring in the Norrie disease gene (NDP). METHODS One hundred nine subjects with diverse pediatric vitreoretinopathies and 54 control subjects were enrolled in the study. Diagnoses were

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