Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome - Tsurusaki, Yoshinori; Okamoto, Nobuhiko; Ohashi, Hirofumi; Kosho, Tomoki; Imai, Yoko; Hibi-Ko, Yumiko; Kaname, Tadashi; Naritomi, Kenji; Kawame, Hiroshi; Wakui, Keiko; Fukushima, Yoshimitsu; Homma, Tomomi; et al. (Nature genetics, 2012)
Keywords: 631/208/2489/144; 631/208/366; Abnormalities, Multiple - genetics; Agriculture; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; brief-communication; Cancer Research; Cells, Cultured; Chromatin; Chromosomal Proteins, Non-Histone - genetics; Coffin-Siris syndrome; Diseases of the osteoarticular system; DNA Copy Number Variations - genetics; DNA Helicases - genetics; DNA-Binding Proteins - genetics; Exome; Face - abnormalities; Female; Fundamental and applied biological sciences. Psychology; Gene Function; Gene mutations; Genetic aspects; Genetics; Genetics of eukaryotes. Biological and molecular evolution; 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; Mutation; Mutation, Missense; Neck - abnormalities; Nuclear Proteins - genetics; Physiological aspects; Proteins; Science; Sequence Analysis, DNA; SMARCB1 Protein; Transcription Factors - genetics; Japan; Dysostosis; Mutation; Congenital disease; Coffin-Siris syndrome; Diseases of the osteoarticular system