Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study

Introduction: Intellectual Disability (ID) is the most common cause of referral to pediatric genetic centers, as it affects around 1–3% of the general population and is characterized by a wide genetic heterogeneity. The Genome Sequencing (GS) approach is expected to achieve a higher diagnostic yield...

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Detalles Bibliográficos
Autores principales: Binquet, Christine, Lejeune, Catherine, Faivre, Laurence, Bouctot, Marion, Asensio, Marie-Laure, Simon, Alban, Deleuze, Jean-François, Boland, Anne, Guillemin, Francis, Seror, Valérie, Delmas, Christelle, Espérou, Hélène, Duffourd, Yannis, Lyonnet, Stanislas, Odent, Sylvie, Heron, Delphine, Sanlaville, Damien, Frebourg, Thierry, Gerard, Bénédicte, Dollfus, Hélène
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8845475/
https://www.ncbi.nlm.nih.gov/pubmed/35178068
http://dx.doi.org/10.3389/fgene.2021.766964

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