Article
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2022
Rouxel Flavien, Relator Raissa, Kerkhof Jennifer, McConkey Haley, Levy Michael, Dias Patricia, Barat-Houari Mouna, Bednarek Nathalie, Boute Odile, Chatron Nicolas, Cherik Florian, Delahaye-Duriez Andrée, Doco-Fenzy Martine, Faivre Laurence, Gauthier Lucas W, Heron Delphine, Hildebrand Michael S, Lesca Gaëtan, Lespinasse James, Mazel Benoit, Menke Leonie A, Morgan Angela T, Pinson Lucile, Quelin Chloe, Rossi Massimiliano, Ruiz-Pallares Nathalie, Tran-Mau-Them Frederic, Van Kessel Imke N, Vincent Marie, Weber Mathys, Willems Marjolaine, Leguyader Gwenael, Sadikovic Bekim, Genevieve David
Abstract excerpt
PURPOSE: Rare genetic variants in CDK13 are responsible for CDK13-related disorder (CDK13-RD), with main clinical features being developmental delay or intellectual disability, facial features, behavioral problems, congenital heart defect, and seizures. In this paper, we report 18 novel individuals with CDK13-RD and provide characterization of genome-wide DNA methylation. METHODS: We obtained clinical phenotype...
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