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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Genetics and Development (including Gene Regulation)
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8090612/
http://dx.doi.org/10.1210/jendso/bvab048.1050

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