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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Bibliografische gegevens
Gepubliceerd in:J Endocr Soc
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2021
Onderwerpen:
Genetics and Development (including Gene Regulation)
Online toegang: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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