The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with unspecific developmental disorders (DD). IMDs were diag...

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Detalles Bibliográficos
Autores principales: Delanne, Julian, Bruel, Ange-Line, Huet, Frédéric, Moutton, Sébastien, Nambot, Sophie, Grisval, Margot, Houcinat, Nada, Kuentz, Paul, Sorlin, Arthur, Callier, Patrick, Jean-Marcais, Nolwenn, Mosca-Boidron, Anne-Laure, Mau-Them, Frédéric Tran, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Lehalle, Daphné, El Chehadeh, Salima, Francannet, Christine, Lebrun, Marine, Lambert, Laetitia, Jacquemont, Marie-Line, Gerard-Blanluet, Marion, Alessandri, Jean-Luc, Willems, Marjolaine, Thevenon, Julien, Chouchane, Mondher, Darmency, Véronique, Fatus-Fauconnier, Clémence, Gay, Sébastien, Bournez, Marie, Masurel, Alice, Leguy, Vanessa, Duffourd, Yannis, Philippe, Christophe, Feillet, François, Faivre, Laurence, Thauvin-Robinet, Christel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8528787/
https://www.ncbi.nlm.nih.gov/pubmed/34712575
http://dx.doi.org/10.1016/j.ymgmr.2021.100812

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8528787/
https://www.ncbi.nlm.nih.gov/pubmed/34712575
http://dx.doi.org/10.1016/j.ymgmr.2021.100812

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