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Skeletal Disorders of Genetic Nature

Bag om Skeletal Disorders of Genetic Nature

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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  • Sprog:
  • Engelsk
  • ISBN:
  • 9784887457126
  • Indbinding:
  • Paperback
  • Sideantal:
  • 198
  • Udgivet:
  • 30. April 2022
  • Størrelse:
  • 152x11x229 mm.
  • Vægt:
  • 295 g.
Leveringstid: Ukendt - mangler pt.

Beskrivelse af Skeletal Disorders of Genetic Nature

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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