Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 7
General: Autosomal recessive.
Ocular: Retinitis pigmentosa.
Clinical: Defective cartilage and growth of long bones, particularly the metacarpals and phalanges.
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/.
Phillips CI, et al. Retinitis pigmentosa, metaphyseal chondrodysplasia and brachydactyly: an affected brother and sister. J Med Genet 1981; 18:46-49.
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