STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference48 articles.
1. Eyelid myoclonia with absences in monozygotic twins;Adachi;Pediatr. Int.,2005
2. Distinct and overlapping roles of STAG1 and STAG2 in cohesin localization and gene expression in embryonic stem cells;Arruda;Epigenet. Chromatin,2020
3. Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation;Bonnet;Am. J. Med. Genet. A.,2009
4. Prevalence of pathogenic copy number variation in adults with pediatric-onset epilepsy and intellectual disability;Borlot;JAMA Neurol.,2017
5. Eyelid fluttering, typical EEG pattern, and impaired intellectual function: a homogeneous epileptic condition among the patients presenting with eyelid myoclonia;Capovilla;Epilepsia,2009
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