FXTAS, FXPOI, and Other Premutation Disorders

• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Άλλοι συγγραφείς: Tassone, Flora (Επιμελητής έκδοσης), Hall, Deborah A. (Επιμελητής έκδοσης)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Cham : Springer International Publishing : Imprint: Springer, 2016.
• Έκδοση: 2nd ed. 2016.
• Θέματα: Medicine.; Human genetics.; Molecular biology.; Neurosciences.; Biomedicine.; Human Genetics.; Molecular Medicine.
• Φυσική περιγραφή: IX, 293 p. 22 illus., 12 illus. in color. online resource.
• ISBN: 9783319338989

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.