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. Francesc (Paco) Palau, Brett J. Bordini, and Robert Kliegman, provides a detailed and comprehensive guide to the diagnosis of rare disorders and the approach to undiagnosed diseases. Written by the most prominent experts in the field, this definitive text is an indispensable resource for clinicians who encounter patients with uncommon symptoms or care for children with chronic, progressive diseases that do not fit a common or definable diagnosis.
Organizes content around anatomical systems, with concise chapters that cover discrete disorders and conditions
Describes the clinical, laboratory, imaging, and genetic diagnostic features in every chapter to help differentiate disorders with similar symptoms or phenotypes
Focuses on diagnosis and management, with brief descriptions of treatment (if known)
Contains numerous figures, algorithms, tables, photographs, and radiographic images for enhanced visual guidance
A unique, comprehensive resource for pediatric specialists, pediatric hospitalists, pediatric fellows, geneticists, and general pediatricians, and an ideal companion volume to Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics and Nelson Textbook of Pediatrics
An eBook version is included with purchase. The eBook allows you to access all of the text, figures and references, with the ability to search, customize your content, make notes and highlights, and have content read aloud. Additional digital ancillary content may publish up to 6 weeks following the publication date
Francesc (Paco) Palau, MD, PhD, Editor-in-Chief, Orphanet Journal of Rare Diseases, CSIC Research Professor, and SJD Distinguished Investigator, Sant Joan de Déu Research Institute and Former Head, Department of Genetic and Molecular Medicine, Sant Joan de Déu Children's Hospital, Spain and Robert Kliegman, MD, Professor and Chair Emeritus, Department of Pediatrics - Medical College of Wisconsin Nelson Undiagnosed and Rare Disease Program, USA
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