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Heterogeneity of the Ehlers-Danlos Syndrome: Description of Three Clinical Types and a Hypothesis to Explain the Basic Defect(s)
source: British Medical Journal
year: 1967
authors: Barabas AP
summary/abstract:The Ehlers-Danlos syndrome is an inherited disorder of connective tissue; it belongs to the same group of diseases as Marfan’s syndrome, osteogenesis imperfecta, and Hurler’s syndrome (McKusick, 1966). Recently the heterogeneity of some of the syndromes became apparent-for example, Hurler’s syndrome was shown to comprise at least five different genotypes (McKusick, 1966).
However, Ehlers-Danlos syndrome is still regarded as a single disease entity, but evidence is here given that at least three types are included in -the present clinical definition of the syndrome.
organization: Royal Postgraduate Medical School; Hammersmith Hospitalread more full text source
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