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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Vydáno v:J Endocr Soc
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2021
Témata:
Genetics and Development (including Gene Regulation)
On-line přístup: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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