Heritable connective tissue disease definition - medical term
A disorder due to mutation of a gene
responsible for connective tissue, the material that gives tissues form and strength.
These mutations may change the structure and development of skin, bones, joints,
heart, blood vessels, lungs, eyes, and ears. Some mutations also change how these
tissues work. There are over 300 mutations affecting collagen, a protein found in
skin, bone, cartilage, and all other connective tissues. Examples of heritable connective
tissue disease include such conditions as Marfan syndrome, osteogenesis imperfecta,
epidermolysis bullosa, Ehlers-Danlos syndrome.
Common Misspellings: heritable connective tissue diease, heritable connective
tissue desease
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