{"product_id":"nelson-pediatric-textbook-of-rare-palau-9780443115110","title":"Nelson Pediatric Textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis","description":"\u003cb\u003eA new addition to the highly esteemed Nelson family of pediatric references\u003c\/b\u003e, \u003ci\u003eNelson Pediatric Textbook of Rare Diseases: Genomic Etiologies and Genetic Diagnosis\u003c\/i\u003e, edited by Drs. Robert Kliegman and Francesc (Paco) Palau, along with Associate Editors, Drs. Basel, Gropman, Slavotinek, Bacino, Rahman and Verbsky, provides a \u003cb\u003edetailed and comprehensive guide to the diagnosis of rare disorders \u003c\/b\u003eand 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.\u003cul\u003e\n\u003cli\u003eReflects the importance of \u003cb\u003egenetic understanding and genetic diagnosis\u003c\/b\u003e as the current approach to rare diseases\u003c\/li\u003e\n\u003cli\u003eOrganizes content around anatomical systems, with \u003cb\u003econcise chapters \u003c\/b\u003ethat cover discrete disorders and conditions\u003c\/li\u003e\n\u003cli\u003eFocuses on \u003cb\u003ediagnosis and management, \u003c\/b\u003e describing the \u003cb\u003eclinical, laboratory, imaging, and genetic diagnostic features\u003c\/b\u003e in every chapter to help differentiate disorders with similar symptoms or phenotypes\u003c\/li\u003e\n\u003cli\u003eContains numerous figures, algorithms, tables, photographs, and radiographic images for \u003cb\u003eenhanced visual guidance\u003c\/b\u003e\n\u003c\/li\u003e\n\u003cli\u003eIncludes 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\u003c\/li\u003e\n\u003cli\u003eShares the knowledge and experience of editors who are\u003cb\u003e leaders in the field of rare diseases \u003c\/b\u003ein both the U.S. and Europe.\u003cb\u003e \u003c\/b\u003eAmong the talented editors, Dr. Palau is editor-in-chief of \u003ci\u003eOrphanet Journal of Rare Diseases\u003c\/i\u003e 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)\u003c\/li\u003e\n\u003cli\u003eA \u003cb\u003eunique, comprehensive resource\u003c\/b\u003e for pediatric specialists, pediatric hospitalists, pediatric fellows, geneticists, and general pediatricians, and an ideal companion volume to \u003ci\u003eNelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics\u003c\/i\u003e and \u003ci\u003eNelson Textbook of Pediatrics\u003c\/i\u003e\n\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eAn eBook version is included with purchase.\u003c\/b\u003e 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\u003c\/li\u003e\n\u003c\/ul\u003e\u003cbr\u003e\u003cbr\u003e\u003cb\u003eAuthor:\u003c\/b\u003e Palau\u003cbr\u003e\u003cb\u003eISBN-10:\u003c\/b\u003e 0443115117\u003cbr\u003e\u003cb\u003eISBN-13:\u003c\/b\u003e 9780443115110\u003cbr\u003e\u003cb\u003ePublisher:\u003c\/b\u003e Elsevier\u003cbr\u003e\u003cb\u003eLanguage:\u003c\/b\u003e English\u003cbr\u003e\u003cb\u003ePublished:\u003c\/b\u003e 09\/11\/2026\u003cbr\u003e\u003cb\u003ePages:\u003c\/b\u003e 850\u003cbr\u003e\u003cb\u003eFormat:\u003c\/b\u003e Hardcover","brand":"Palau","offers":[{"title":"Hardcover","offer_id":48520093761791,"sku":"9780443115110","price":109.99,"currency_code":"USD","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0662\/2982\/9887\/files\/img_9487bd05-277e-490b-96df-220f3f5c1711.jpg?v=1778740706","url":"https:\/\/www.whiterainbookhouse.com\/products\/nelson-pediatric-textbook-of-rare-palau-9780443115110","provider":"WR Book House","version":"1.0","type":"link"}