Nelson Pediatric Textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis by Robert Kliegman MD

A new addition to the highly esteemed Nelson family of pediatric references, Nelson Pediatric Textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis, edited by Drs. Robert Kliegman and Francesc (Paco) Palau, along with Associate Editors, Drs. Basel, Verbsky, Bacino, Slavotinek, Gropman, and Rahman, provides a detailed and comprehensive guide to the diagnosis of rare disorders and the approach to undiagnosed diseases―offering in-depth content on a topic often just touched on in other pediatric textbooks. Written by the most prominent experts from around the world, this definitive text is an indispensable resource for any clinician treating pediatric patients. Reflects the importance of genetic understanding and genetic diagnosis as the current approach to rare diseases Organizes content around anatomical systems, with concise chapters that cover discrete disorders and conditions Focuses on diagnosis and management, describing the clinical, laboratory, imaging, and genetic diagnostic features in every chapter to help differentiate disorders with similar symptoms or phenotypes Contains numerous figures, algorithms, tables, photographs, and radiographic images for enhanced visual guidance Includes chapters devoted to topics such as Ciliopathies, Neurodegeneration with Brain Iron Accumulation, Cancer Susceptibility Syndromes, Mitochondrial Disorders, Interferonopathies, and Epigenomic and Imprinting Syndromes, and others covering dysmorphology, neurologic, metabolic, genetic, and immune disorders Read more