Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder - Talkowski, Michael E.; Mullegama, Sureni V.; Rosenfeld, Jill A.; van Bon, Bregje W.M.; Shen, Yiping; Repnikova, Elena A.; Gastier-Foster, Julie; Thrush, Devon Lamb; Kathiresan, Sekar; Ruderfer, Douglas M.; Chiang, Colby; Hanscom, Carrie; et al. (American journal of human genetics, 2011)
Keywords: Adolescent; Adult; Adult and adolescent clinical studies; Autism; Binding sites; Biological and medical sciences; Breakpoints; Case-Control Studies; Child; Child Development Disorders, Pervasive - genetics; Child, Preschool; Chromatin remodeling; Chromosome translocations; Chromosomes; Chromosomes, Human, Pair 2; Coding; CpG Islands; DNA-Binding Proteins - genetics; Epigenesis, Genetic; epigenetics; Epilepsy; Epilepsy - genetics; Etiology; Female; Fundamental and applied biological sciences. Psychology; Gene Deletion; Gene expression; General aspects. Genetic counseling; Genetics; Genetics of eukaryotes. Biological and molecular evolution; haploinsufficiency; Humans; Intellectual deficiency; Intellectual Disability - genetics; Male; Medical genetics; medical records; Medical sciences; Mental retardation; Molecular and cellular biology; Neurodegeneration; Neurodevelopmental disorders; Phenotype; Proteins; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Syndrome; Handicap; Human; Microdeletion; Nervous system diseases; Epilepsy; Developmental disorder; Mental retardation; Cerebral disorder; Autism; Pervasive developmental disorder; Central nervous system disease; Intellectual deficiency; Genetics; Locus