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

doi:10.1002/(SICI)1098-1004(1997)9:5<402::AID-HUMU4>3.0.CO;2-5

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Article

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

Human mutation - 1 Jan 1997

Rehm H L, Gutiérrez-Espeleta G A, Garcia R, Jiménez G, Khetarpal U, Priest J M, Sims K B, Keats B J, Morton C C

Abstract excerpt

A large Costa Rican kindred has been identified with 15 males affected with congenital blindness, progressive bearing loss, and venous insufficiency. Due to ophthalmological and audio-otological findings, including bilateral retinal dysplasia and detachment, progressive bilateral sensorineural he...

Topics

Blindness
Costa Rica
Deafness
Genetic Linkage
Humans
Intellectual Disability
Karyotyping
Male
Peripheral Vascular Diseases
Phenotype
X Chromosome

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