Discovery of a New Molecular Cause of a Neurodevelopmental Disorder from the Group of DNA Remodeling Defects.
DNA remodelling disorders are a rapidly expanding group of rare monogenic diseases. Common features of these conditions include de-novo heterozygous causative variants in key genes/proteins involved in DNA and histone modification pathways, as well as highly variable clinical phenotypes encompassing developmental and functional abnormalities affecting multiple organs, particularly the nervous and cranioskeletal systems.
