Novel mutation in the MED23 gene for intellectual disability: A case report and literature review
Author:
Affiliation:
1. Genomic Research Center; Shahid Beheshti University of Medical Sciences; Tehran Iran
2. Department of Medical Genetics, School of Medicine; Shiraz University of Medical Sciences; Shiraz Iran
Publisher
Wiley
Subject
General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.1942/fullpdf
Reference30 articles.
1. Advances in understanding - genetic basis of intellectual disability;Chiurazzi;F1000Research,2016
2. Genetic studies in intellectual disability and related disorders;Vissers;Nat Rev Genet,2016
3. Updates in the genetic evaluation of the child with global developmental delay or intellectual disability;Flore;Semin Pediatr Neurol,2012
4. Genetic and epigenetic networks in intellectual disabilities;Bokhoven;Annu Rev Genet,2011
5. MED23 mutation links intellectual disability to dysregulation of immediate early gene expression;Hashimoto;Science,2011
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