Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases
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DOI: 10.1038/jhg.2016.164
Abstract: 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… read more here.
Keywords: unrelated cases; intellectual disability; gatad2b loss; two unrelated ... See more keywords
Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases
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DOI: 10.3390/ijms21103431
Abstract: Satellited non-acrocentric autosomal chromosomes (ps–qs-chromosomes) are the result of an interchange between sub- or telomeric regions of autosomes and the p arm of acrocentrics. The sequence homology at the rearrangement breakpoints appears to be, among… read more here.
Keywords: unrelated cases; instability short; non acrocentric; acrocentric chromosomes ... See more keywords