De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome - Hoischen, Alexander; van Bon, Bregje W M; Rodríguez-Santiago, Benjamín; Gilissen, Christian; Vissers, Lisenka E L M; de Vries, Petra; Janssen, Irene; van Lier, Bart; Hastings, Rob; Smithson, Sarah F; Newbury-Ecob, Ruth; Kjaergaard, Susanne; et al. (Nature genetics, 2011)
Keywords: 631/208/2489/144; Agriculture; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; brief-communication; Cancer; Cancer Research; Codon, Nonsense - genetics; Complex syndromes; Congenital defects; Craniosynostoses - etiology; Craniosynostoses - pathology; Diagnosis; Experiments; Face - abnormalities; Face - pathology; Fundamental and applied biological sciences. Psychology; Gaming machines; Gene Function; Genes; Genetic aspects; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; Human Genetics; Humans; Intellectual Disability - etiology; Intellectual Disability - genetics; Intellectual Disability - pathology; Medical genetics; Medical research; Medical sciences; Mutation; Opitz syndrome; Physiological aspects; Polymorphism, Single Nucleotide - genetics; Repressor Proteins - genetics; Suppression, Genetic; Switzerland; Nonsense mutation; De novo; Syndrome