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Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.

Rehm HL, Gutiérrez-Espeleta GA, Garcia R, Jiménez G, Khetarpal U, Priest JM, Sims KB, Keats BJ, Morton CC. Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency. Hum Mutat. 1997; 9(5):402-8.

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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.