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НАСЛЕДУЕМЫЕ МОНОГЕННЫЕ ЗАБОЛЕВАНИЯ

           

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders marked by extremely loose joints, hyperelastic (very stretchy) skin that bruises easily, and easily damaged blood vessels.

There are 6 major types and at least 5 minor types of Ehlers-Danlos syndrome.

A variety of gene changes (mutations) cause problems with collagen. This is the material that provides strength and structure to the skin, bone, blood vessels and internal organs. The abnormal collagen leads to the symptoms associated with EDS.

GENE OR REGION STUDIED


  • B4GALT7