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  • Title: Cohen syndrome with high urinary excretion of hyaluronic acid.
    Author: Okamoto N, Hatsukawa Y, Arai H, Goto M.
    Journal: Am J Med Genet; 1998 Apr 13; 76(5):387-8. PubMed ID: 9556296.
    Abstract:
    Cohen syndrome (MIM 216550) is an autosomal recessive disorder of unknown pathogenesis. The clinical manifestations of Cohen syndrome can be explained as a connective tissue disorder. We found a remarkably high level of urinary hyaluronic acid in 3 patients with Cohen syndrome. Hyperhyaluronic aciduria is a characteristic finding in Werner syndrome and some other conditions. We suggest that the basic defect of Cohen syndrome is associated with a metabolic abnormality in the extracellular matrix.
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