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reference materials
Ehlers-Danlos Syndrome
source: Merck Manual
year: 2017
authors: Frank Pessler
summary/abstract:Ehlers-Danlos syndrome is a hereditary collagen disorder characterized by articular hypermobility, dermal hyperelasticity, and widespread tissue fragility. Diagnosis is clinical. Treatment is supportive.
Inheritance is usually autosomal dominant, but Ehlers-Danlos syndrome is heterogeneous. Different gene mutations affect the amount, structure, or assembly of different collagens. Mutations can exist in the genes that encode collagens (eg, type I, III, or V) or collagen-modifying enzymes (eg, lysyl hydroxylase, a collagen-cleaving protease).
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