Skeletal Disorders of Genetic Nature

Viac o knihe

Skeletal dysplasia are a heterogenous group of disorders affecting specific skeletal elements or a generalized bone growth and development. They might be restricted to skeleton or involve other body systems to emerge as more complex anomalies. The genetic basis has been uncovered in a large number of congenital disorders that shows involvement of varied molecular pathways regulating skeletal patterning and growth. The advent of next generation sequencing has enabled a fast and more comprehensive genetic characterization of the observed phenotypes. The work presented in this book describes clinical and genetic analysis of families exhibiting skeletal disorders of different types.