Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene
Author:
Funder
SingHealth Duke-NUS Academic Medical Centre
National Medical Research Council
Ministry of Health
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference27 articles.
1. Chromatin remodeling BAF (SWI/SNF) complexes in neural development and disorders;Sokpor;Front. Mol. Neurosci.,2017
2. Dynamics of expression of ARID1A and ARID1B subunits in mouse embryos and in cells during the cell cycle;Flores-Alcantar;Cell Tissue Res.,2011
3. Two related ARID family proteins are alternative subunits of human SWI/SNF complexes;Wang;Biochem. J.,2004
4. SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability;Santen;Epigenetics,2012
5. Mutational landscapes and phenotypic Spectrum of SWI/SNF-related intellectual disability disorders;Bogershausen;Front. Mol. Neurosci.,2018
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3. Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4;Genes & Genomics;2022-03-30
4. Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome;American Journal of Medical Genetics Part A;2021-03-26
5. The Evolutionary Conserved SWI/SNF Subunits ARID1A and ARID1B Are Key Modulators of Pluripotency and Cell-Fate Determination;Frontiers in Cell and Developmental Biology;2021-03-04
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