Fragile X Spectrum Disorders


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Fragile X Spectrum Disorders


Fragile X Spectrum Disorders

Author: Randi Jenssen Hagerman

language: en

Publisher: Frontiers Media SA

Release Date: 2022-08-29


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Cassidy and Allanson's Management of Genetic Syndromes


Cassidy and Allanson's Management of Genetic Syndromes

Author: John C. Carey

language: en

Publisher: John Wiley & Sons

Release Date: 2021-01-27


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MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Fragile X Syndrome and Premutation Disorders


Fragile X Syndrome and Premutation Disorders

Author: Randi Jenssen Hagerman

language: en

Publisher:

Release Date: 2020


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This book covers both molecular and clinical aspects of Fragile X Syndrome (FXS) and premutation disorders so that new targeted treatments can be understood by clinicians and parents.