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scientific articles

Hereditary Disorders of Connective Tissue

key information

source: Bulletin of the New York Academy of Medicine

year: 1959

authors: McKusick VA


Least five conditions appear to be hereditary and generalized derangements of one or another element of connective tissue: The Marfan syndrome, the Ehlers-Danlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum, and the Hurler syndrome. Each appears to be due to a simple mutant gene, or, possibly better said, a pair of mutant genes at a single locus, since two of these conditions behave as “recessives.” I will use the terms “recessive” and “dominant” with the reservations which Dr. Childs indicates are necessary.

organization: Johns Hopkins Hospital, Johns Hopkins University School of Medicine

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