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PLoS Genetics, ISSN 1553-7390, 10/2017, Volume 13, Issue 10, p. e1006864
Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism... 
METHYLATION | MEMORY | MOLECULAR CONVERGENCE | GENETICS & HEREDITY | GENE-EXPRESSION | COMPASS FAMILY | DEVELOPMENTAL DELAY | COURTSHIP | DROSOPHILA | NUCLEAR RECEPTOR | DELETION | Cytoskeletal Proteins - genetics | Humans | Male | Craniofacial Abnormalities - physiopathology | Drosophila melanogaster - genetics | Intellectual Disability - genetics | Chromosomes, Human, Pair 9 - genetics | Heart Defects, Congenital - genetics | Neuronal Plasticity - genetics | Adult | Female | Child | Craniofacial Abnormalities - genetics | Chromosome Deletion | Autism Spectrum Disorder - genetics | Promoter Regions, Genetic | Histone-Lysine N-Methyltransferase - genetics | Gene Expression Regulation | Binding Sites - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Haploinsufficiency | Intellectual Disability - physiopathology | Animals | Histones - genetics | Adolescent | Heart Defects, Congenital - physiopathology | Drosophila Proteins - genetics | Mutation | Autism Spectrum Disorder - physiopathology | Physiological aspects | Histones | Methyltransferases | Mental retardation | Pervasive developmental disorders | Neurosciences | Transcription | Laboratories | Funding | Intellectual disabilities | Memory | Genes | Genomics | Disorders | Nervous system | Convergence | Euchromatin | Histone methyltransferase | Genetics | Life sciences | Bioinformatics | Protein families | Supervision | Medical research | Head | Developmental biology | Drosophila | Autism | Brain research | Plasticity (synaptic) | Cognition & reasoning | Insects | Short term memory | Binding sites
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 2015, Volume 36, Issue 1, pp. 69 - 78
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 9, pp. 1176 - 1185
textabstractLoss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental,... 
16Q24.3 | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | COGNITIVE IMPAIRMENT | PATIENT | IDENTIFICATION | GENOME | DELETION | HAPLOINSUFFICIENCY | Abnormalities, Multiple - pathology | Tooth Abnormalities - diagnosis | Humans | Middle Aged | Autism Spectrum Disorder - complications | Child, Preschool | Intellectual Disability - complications | Male | Bone Diseases, Developmental - genetics | Bone Diseases, Developmental - pathology | Intellectual Disability - genetics | Exome | DNA Mutational Analysis | Tooth Abnormalities - complications | Gene Deletion | Facies | Adult | Female | Bone Diseases, Developmental - complications | Bone Diseases, Developmental - diagnosis | Child | Abnormalities, Multiple - genetics | Autism Spectrum Disorder - diagnosis | Autism Spectrum Disorder - genetics | Gene Expression | Tooth Abnormalities - genetics | Intellectual Disability - pathology | Repressor Proteins - genetics | Genotype | Autism Spectrum Disorder - pathology | Phenotype | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Chromosomes, Human, Pair 16 | Tooth Abnormalities - pathology | Phenotypes | Hyperactivity | Teeth | Genomes | Neurodevelopmental disorders | Patients | Hip | Hearing loss | Autism | Genotype & phenotype | Hearing | Nose | Phenotyping | Incisors | Genetics | Children | Mutation
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 6, pp. 844 - 846
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2016, Volume 53, Issue 8, pp. 523 - 532
Journal Article
European journal of human genetics, ISSN 1018-4813, 2012, Volume 20, Issue 6, pp. 598 - 606
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 904 - 913
Journal Article