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Rosenberg-chutorian syndrome 1


Rosenberg-Chutorian Syndrome 1

General: Recessive inheritance; inheritance is considered X-linked semidominant.

Ocular: Optic atrophy.

Clinical: Polyneuropathy; neural hearing loss.

Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.

Konigsmark BW, et al. Dominant congenital deafness and progressive optic nerve atrophy. Arch Ophthalmol 1974; 91:99-l03.

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/.

Rosenberg RN, Chutorian A. Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology 1967; 17: 827-832.




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