FXTAS, FXPOI, and Other Premutation Disorders

Download or read book FXTAS, FXPOI, and Other Premutation Disorders written by Flora Tassone and published by Springer. This book was released on 2016-11-17 with total page 296 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.