Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders
Author:
Funder
Bundesministerium für Bildung und Forschung
Publisher
Frontiers Media SA
Subject
Cellular and Molecular Neuroscience,Molecular Biology
Reference78 articles.
1. The SWI/SNF chromatin remodelling complex is required for maintenance of lineage specific enhancers.;Alver;Nat. Commun.,2017
2. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.;Ansari;J. Med. Genet.,2014
3. A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum.;Backx;Cytogenet. Genome Res.,2011
4. Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.;Ben-Salem;Am. J. Med. Genet. A,2016
5. SWI/SNF deficiency results in aberrant chromatin organization, mitotic failure, and diminished proliferative capacity.;Bourgo;Mol. Biol. Cell,2009
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