Nelson Pediatric Textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis (True PDF)

By Robert Kliegman MD, Francesc (Paco) Palau MD PhD
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
Shares the knowledge and experience of editors who are leaders in the field of rare diseases in both the U.S. and Europe.Among the talented editors, Dr. Palau is editor-in-chief of Orphanet Journal of Rare Diseases and the first scientific director of CIBERER, the Spanish network of excellence in rare diseases. Dr. Basel is the medical director of the Genetics and Genomics Program at Children’s Wisconsin, named a Center of Excellence by the National Organization for Rare Disorders (NORD)
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, make notes and highlights, and have content read aloud. Additional digital ancillary content may publish after the publication date

Product Details

Publisher ‏ : ‎ Elsevier
Publication date ‏ : ‎ September 25, 2026
Edition ‏ : ‎ 1st
Language ‏ : ‎ English
ISBN-10 ‏ : ‎ 0443115117
ISBN-13 ‏ : ‎ 978-0443115110