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General: Autosomal dominant; onset in childhood; progressive.
Ocular: Congenital posterior polar opacity; scattered cortical opacities; choroideremia; myopia.
Clinical: None.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Valk LE, et al. A case of familial dwarfism, with choroideremia, myopia, posterior polar cataract and zonular cataract. Ophthalmologica 1956; 132:299.
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