[The genetics of collagen diseases].
Heritable disorders of collagen include Ehler-Danlos syndromes (11 types are actually known), Larsen syndrome and osteogenesis imperfecta. Their clinical, genetic and biochemical features are reviewed. Marfan syndrome is closely related to heritable disorders of collagen.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology; D002972:Cleft Palate / Q000235:genetics / Q000503:physiopathology; D003094:Collagen / Q000096:biosynthesis; D003095:Collagen Diseases / Q000235:genetics* / Q000503:physiopathology; D004535:Ehlers-Danlos Syndrome / Q000235:genetics / Q000378:metabolism; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000235:genetics / Q000503:physiopathology; D013577:Syndrome
D003094:Collagen
Génétique des maladies du collagène.