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reference materials

Clinical Reference Manual Vascular Type

key information

source: Ehlers-Danlos National Foundation (EDNF)

year: 2009

authors: James H Black III, Jennifer Fairman

summary/abstract:

Ehlers-Danlos Syndrome (EDS) is a heterogenous group of inherited connective tissue disorders. The fragile skin and unstable joints found in EDS are due to faulty collagen, a protein that acts like glue in the body by adding strength and elasticity to connective tissue.

VEDS is caused by structural defects in the proa1 (III) chain is collagen type III, encoded by the COL3A1 gene; it is an inherited in an autosomal dominant manner. Within each family the EDS type runs true, but family members may vary in clinical severity and manifestations. It is known to affect men and women of all racial and ethic backgrounds.

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