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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:J Endocr Soc
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Oxford University Press 2021
Θέματα:
Genetics and Development (including Gene Regulation)
Διαθέσιμο Online: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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