Sunday, December 23, 2018

Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development Download PDF By Jurgen W. Spranger, Paula Brill, Andrea Superti-Furga, Sheila Unger, Gen Nishimura


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Since the publication of the second edition on Bone Dysplasias ten years ago, there has been an explosion of knowledge about skeletal dysplasias. The molecular basis of a great number of disorders has been delineated, and many new conditions have been recognized. Now more than ever, the importance of accurate diagnosis cannot be overstated. Given the growth of activity and research in the field, practitioners must acknowledge that many conditions with superficial similarities have different inheritance patterns and prognoses. Various research and routine laboratories can pinpoint specific diagnoses, but before the appropriate laboratory can be consulted and eventual costs.
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