Type4 Ehlers-Danlos syndrome is characterized by:
Correct Answer: Decreased amount of type III collagen.
Description: In EDS types I and II, the classic variety, causative mutations may involve the COL5A1, COL5A2, and tenascin-X genes. Type IV is characterized by a decreased amount of type III collagen. Types V and VI are characterized by deficiencies in hydroxylase and lysyl oxidase, an important posttranslational modifying enzyme in collagen biosynthesis. Type VII has an amino-terminal procollagen peptidase deficiency. Type IX has abnormal copper metabolism. Type X has nonfunctioning plasma fibronectin.
Category:
Pathology
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