Article
Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype.
Ophthalmic genetics - 1 Dec 1996
Caballero M, Veske A, Rodriguez J J, Lugo N, Schroeder B, Hesse L, Gal A
Abstract excerpt
Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness due to a degenerative and proliferative dysplasia of the neuroretina and, occasionally, by deafness and mental handicap. Here, we report two novel mutations detected in patients with the classical eye features of ND. Both the one-base pair insertion in exon II (544/545 insA) and the two-base pair deletion in the start...
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