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DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

Jet van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A. Levy, Matthew L. Tedder, Raymond J. Louie, Robin S. Fletcher, Hannah W. Moore, Anna K. Childers, Ellyn Farrelly, Neena L. Champaigne, Michael J. Lyons, David B. Everman, R. Curtis Rogers, Steven A. Skinner, Alicia Renck, Dena R. Matalon, Shelley K. Dills, Berrin Monteleone, Serwet Demirdas, Alexander J.M. Dingemans, Laura Donker Kaat, Sharon M. Kolk, Rolph Pfundt, Patrick Rump, Bekim Sadiković, Tjitske Kleefstra, Kameryn M. Butler

2022Genetics in Medicine16 citationsDOIOpen Access PDF

Topics & Concepts

HaploinsufficiencyDNA methylationEpigeneticsGeneticsPhenotypeBiologyHuman geneticsGeneGene expressionEpigenetics and DNA MethylationGenetics and Neurodevelopmental DisordersInfant Nutrition and Health
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency | Litcius