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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, FXPOIand 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 ofFXTAS,FXPOI and other premutation disordersincluding 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.
- Format: Inbunden
- ISBN: 9783319338965
- Språk: Engelska
- Antal sidor: 293
- Utgivningsdatum: 2016-11-23
- Förlag: Springer International Publishing AG