Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features
Author:
Funder
University of Leuven
Belgian Government
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference14 articles.
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2. De novo mutations in epileptic encephalopathies;Allen;Nature,2013
3. X-inactivation profile reveals extensive variability in X-linked gene expression in females;Carrel;Nature,2005
4. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation;Froyen;Am J Hum Genet,2008
5. Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis;Gandomi;J Genet Couns,2014
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