FXTAS, FXPOI, and Other Premutation Disorders

Nonfiction, Science & Nature, Science, Other Sciences, Molecular Biology, Health & Well Being, Medical, Medical Science, Genetics
Cover of the book FXTAS, FXPOI, and Other Premutation Disorders by , Springer International Publishing
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Author: ISBN: 9783319338989
Publisher: Springer International Publishing Publication: November 17, 2016
Imprint: Springer Language: English
Author:
ISBN: 9783319338989
Publisher: Springer International Publishing
Publication: November 17, 2016
Imprint: Springer
Language: English

This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.

The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed.

 

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This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.

The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed.

 

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