DNA methylation episignature in Gabriele-de Vries syndrome
Florian Cherik, Jack Reilly, Jennifer Kerkhof, Michael A. Levy, Haley McConkey, Mouna Barat‐Houari, Kameryn M. Butler, Christine Coubes, Jennifer A. Lee, Gwenaël Le Guyader, Raymond J. Louie, Wesley G Patterson, Matthew L. Tedder, Mads Bak, Trine Bjørg Hammer, William Craigen, Florence Démurger, Christèle Dubourg, Mélanie Fradin, Rachel Franciskovich, Eirik Frengen, Jennifer Friedman, Nathalie Ruiz Palares, Maria Iascone, Doriana Misceo, Pauline Monin, Sylvie Odent, Christophe Philippe, Flavien Rouxel, Veronica Saletti, Petter Strømme, Perla Thulin, Bekim Sadiković, David Geneviève
Topics & Concepts
Missense mutationDNA methylationGeneticsHypotoniaPhenotypeMethylationBiologyDNABioinformaticsGeneGene expressionGenomic variations and chromosomal abnormalitiesCongenital limb and hand anomaliesGenetic Syndromes and Imprinting