Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases
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Luo, Xiaomei , Zou, Yongyi , Tan, Bo , Zhang, Yue , Guo, Jing , Zeng, Lanlan , Zhang, Rui , Tan, Hu , Wei, Xianda , Hu, Yiqiao , Zheng, Yu , Liang, Desheng and Wu, Lingqian
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England: Nature Publishing Group
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English
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England: Nature Publishing Group
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GATA zinc finger domain-containing 2B (GATAD2B) is a subunit of the methyl-CpG-binding protein-1 complex (MECP1), which deacetylates methylated nucleosomes and regresses transcriptional activity. Recently, GATAD2B has been elucidated as a candidate gene in patients with intellectual disability (ID). In this study, we identified two novel heterozygo...
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Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases
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TN_cdi_proquest_miscellaneous_1891871481
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1891871481
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2016.164
