Signs and Symptoms of Genetic ConditionsA Handbook

Signs and Symptoms of Genetic ConditionsA Handbook

Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, and H. Eugene Hoyme

Print publication date: May 2014

ISBN: 9780199930975

Publisher: Oxford University Press


Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical online guide for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis. Features include prominent flow chart diagrams that graphically depict the diagnostic approach, concise recommendations for laboratory and/or imaging studies, and health supervision and management strategies.