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Epiphyseal dysplasia of femoral heads, myopia, deafness


Epiphyseal Dysplasia of Femoral Heads, Myopia, Deafness 535i87f 535i87f 535i87f

General: Autosomal recessive.

Ocular: Severe myopia.

Clinical: Femoral epiphyseal dysplasia; deafness.

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/.

Pfeiffer RA, et al. Epiphyseal dysplasia of the femoral head, severe myopia, and perceptive hearing loss in 3 brothers. Clin Genet 1973; 4:141-l44.




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