FXTAS, FXPOI, and Other Premutation Disorders

FXTAS, FXPOI, and Other Premutation Disorders

Author
Flora Tassone, Deborah A. Hall (eds.)
Publisher
Springer International Publishing
Language
English
Edition
2
Year
2016
Page
IX, 293
ISBN
978-3-319-33896-5,978-3-319-33898-9
File Type
pdf
File Size
5.7 MiB

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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