Article
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Journal of medical genetics - 21 Dec 2023
Racine Caroline, Denommé-Pichon Anne-Sophie, Engel Camille, Tran Mau-Them Frederic, Bruel Ange-Line, Vitobello Antonio, Safraou Hana, Sorlin Arthur, Nambot Sophie, Delanne Julian, Garde Aurore, Colin Estelle, Moutton Sébastien, Thevenon Julien, Jean-Marçais Nolwenn, Willems Marjolaine, Geneviève David, Pinson Lucile, Perrin Laurence, Laffargue Fanny, Lespinasse James, Lacaze Elodie, Molin Arnaud, Gerard Marion, Lambert Laetitia, Benigni Charlotte, Patat Olivier, Bourgeois Valentin, Poe Charlotte, Chevarin Martin, Couturier Victor, Garret Philippine, Philippe Christophe, Duffourd Yannis, Faivre Laurence, Thauvin-Robinet Christel
Abstract excerpt
PURPOSE: Wide access to clinical exome/genome sequencing (ES/GS) enables the identification of multiple molecular diagnoses (MMDs), being a long-standing but underestimated concept, defined by two or more causal loci implicated in the phenotype of an individual with a rare disease. Only few series report MMDs rates (1.8% to 7.1%). This study highlights the increasing role of MMDs in a large cohort of individuals...
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