Bone dysplasias an atlas of genetic disorders of skeletal development

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ISBN 13: 9780195396089

bone dysplasias an atlas of genetic disorders of skeletal development

Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development (3 ed.) Jurgen W. Spranger, Paula Brill, Andrea Superti-Furga, Sheila Unger, and Gen.

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Jurgen W. Spranger, M. Paula Brill, M. Andrea Superti-Furga, M. Sheila Unger, M. Gen Nishimura, M. Since the publication of the second edition on Bone Dysplasias ten years ago, there has been an explosion of knowledge about skeletal dysplasias.

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Please take this quick survey to tell us about what happens after you publish a paper. Human Genetics. The fourth edition of Bone Dysplasias provides an excellent reference for professionals working in the field of skeletal dysplasia, including geneticists, radiologists, paediatricians, orthopaedic surgeons and therapists. There is a short introduction focusing on the history of skeletal dysplasias which is helpful to establish the context of the current atlas and understand the long journey leading to its publication. The format of the book is simple to follow, so that the reader can easily locate the specific information they want. Each condition has a short dedicated section with a summary of the major clinical and radiological findings. Then, there follows a section on genetics, with mode of inheritance and the underlying genetic basis.

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 considered, clinical and radiographic features must be identified with a high degree of precision. A true landmark in the study and investigation of bone dysplasias, this comprehensive volume will be a must-have resource radiologists, medical geneticists, orthopedic surgeons, pediatricians, and genetic counselors caring for patients with bone dysplasias.

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Bone Dysplasias. An Atlas of Genetic Disorders of Skeletal Development (Fourth Edition).

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