Clinical and genetic diversity of hereditary connective tissue dysplasia
Abstract Dysplasia of connective tissue is a clinical symptom complex, often observed in the population. Most forms have a hereditary nature and are characterized by the simultaneous involvement in the pathological process of multiple systems of the body where the connective tissue is presented. These diseases are clinically and genetically heterogeneous. These diseases are clinically and genetically heterogeneous, as caused by mutations in genes of collagens, proteins of the territorial matrix, and morphogenesis regulators of connective tissue (transcription factors and transforming growth factors). The existence of a large number of phenocopies requires fine differential diagnostics. This article discusses the modern concepts of the genetic diversity of hereditary dysplasia of connective tissue, about basic categories of inherited patterns, possibilities of DNA diagnostics, and use of the results in clinical practice.
Keywords:hereditary connective tissue dysplasia, collagene, fibrillin , Marfan Syndrome, Ehlers–Danlos syndrome, DNA-diagnostics
Clin. Experiment. Surg. Petrovsky J. 2015. № 2. Р. 5–17.
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