Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome - Santen, Gijs W E; Aten, Emmelien; Sun, Yu; Almomani, Rowida; Gilissen, Christian; Nielsen, Maartje; Kant, Sarina G; Snoeck, Irina N; Peeters, Els A J; Hilhorst-Hofstee, Yvonne; Wessels, Marja W; den Hollander, Nicolette S; et al. (Nature genetics, 2012)
Keywords: 631/208/176; 631/208/2489/144; 631/208/366; Abnormalities, Multiple - genetics; Agriculture; Analysis; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; brief-communication; Cancer Research; Child; Child, Preschool; Chromatin; Chromatin Assembly and Disassembly - genetics; Coffin-Siris syndrome; Diseases of the osteoarticular system; DNA Copy Number Variations; DNA-Binding Proteins - genetics; Face - abnormalities; Female; Fingers & toes; Fundamental and applied biological sciences. Psychology; Gene Function; Gene mutations; Genes; Genetic aspects; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genomes; Genotype & phenotype; Hand Deformities, Congenital - genetics; Human Genetics; Humans; Intellectual Disability - genetics; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Micrognathism - genetics; Middle Aged; Mutation; Neck - abnormalities; Physiological aspects; Sequence Deletion; Speech Disorders - genetics; Transcription Factors - genetics; Netherlands; Gene; Coffin-Siris syndrome; Diseases of the osteoarticular system; Dysostosis; Mutation; Congenital disease; Chromatin remodeling