Article
Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.
Molecular vision - 2 Sept 2005
Riveiro-Alvarez Rosa, Trujillo-Tiebas Maria José, Gimenez-Pardo Ascension, Garcia-Hoyos Maria, Cantalapiedra Diego, Lorda-Sanchez Isabel, Rodriguez de Alba Marta, Ramos Carmen, Ayuso Carmen
Abstract excerpt
PURPOSE: Norrie disease (OMIM 310600) is a rare X-linked disorder characterized by congenital blindness in males. Approximately 40 to 50% of the cases develop deafness and mental retardation. X-linked familial exudative vitreoretinopathy (XL-FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. Both X-linked disorders are due to mutations in the NDP gene, which...
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