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Keyword - Ehlers-Danlos syndrome (KW-0248)

Definition

Protein which, if defective, causes Ehlers-Danlos syndrome (EDS), a genetically and phenotypically heterogeneous group of connective-tissue disorders. It affects primarily the skin, ligaments, joints, and blood vessels. Typical features include skin hyperextensibility, joint hypermobility, easy bruisability, friability of tissues with bleeding and poor wound healing. Inheritance can be autosomal dominant, autosomal recessive, or X-linked recessive.

Synonyms

  • EDS

Category

Disease

Graphical

Ehlers-Danlos syndromeDisease