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What Every Internist Should Know About Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five-Year Experience of Internal Medicine for Complex Rare Genetic Syndromes

Introduction: Patients with complex rare genetic syndromes (CRGS) have, by definition, combined medical problems affecting multiple organ systems. Intellectual disability (ID) is often part of the syndrome. During childhood, most patients with CRGS receive multidisciplinary (MD) and specialized pedi...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Rosenberg, Anna G W, Pater, Minke R A, Davidse, Kirsten, Kattentidt-Mouravieva, Anja A, Kersseboom, Rogier, Bos-Roubos, Anja G, van Eeghen, Agnies, van der Meulen, Jiske J, Veen, José M C, van Aalst, Nina, Hoekstra, Franciska M E, Van der Lely, Aart J, de Graaff, Laura C G
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8090612/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.1050
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