Abstract:Relevance: Hereditary connective tissue disorders (HCTDs) are a heterogeneous group of diseases caused by mutations in the genes of extracellular matrix proteins or proteins involved in connective tissue morphogenesis. Mutations of these genes lead to the development of many HCTDs. The best known monogenic variants of HCTDs are Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta. Inheritance is mainly autosomal, dominant or recessive. Although the first signs of HCTDs develop as early as the f… Show more
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