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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.
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Skeletal Disorders of Genetic Nature, Shabir Hussain Wani
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- Pubblicato
- 2022
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