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Ehlers-Danlos syndrome IV due to a novel defect in type III procollagen

โœ Scribed by Pyeritz, Reed E. ;Stolle, Catherine A. ;Parfrey, Nollaig A. ;Myers, Jeanne C.


Publisher
John Wiley and Sons
Year
1984
Tongue
English
Weight
885 KB
Volume
19
Category
Article
ISSN
0148-7299

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Ehlers-Danlos syndrome type 1V (EDS 1V) is an autosomal dominant disorder characterized by fragile skin, blood vessels, and internal organs and associated with decreased production, secretion, or thermal stability of type 111 procollagen. Mutations in the gene for type 111 procollagen have been iden