Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

Intellectual disability (ID) disorders are genetically and phenotypically highly heterogeneous and present a major challenge in clinical genetics and medicine. Although many genes involved in ID have been identified, the etiology is unknown in most affected individuals. Moreover, the function of mos...

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Veröffentlicht in:	American journal of human genetics 2012-07, Vol.91 (1), p.73-82
Hauptverfasser:	Kleefstra, Tjitske, Kramer, Jamie M., Neveling, Kornelia, Willemsen, Marjolein H., Koemans, Tom S., Vissers, Lisenka E.L.M., Wissink-Lindhout, Willemijn, Fenckova, Michaela, van den Akker, Willem M.R., Kasri, Nael Nadif, Nillesen, Willy M., Prescott, Trine, Clark, Robin D., Devriendt, Koenraad, van Reeuwijk, Jeroen, de Brouwer, Arjan P.M., Gilissen, Christian, Zhou, Huiqing, Brunner, Han G., Veltman, Joris A., Schenck, Annette, van Bokhoven, Hans
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult and adolescent clinical studies Animals Biological and medical sciences Chromatin Chromosomal Proteins, Non-Histone - genetics Developmental disabilities DNA-Binding Proteins - genetics Drosophila Epigenesis, Genetic Epigenetics Female Fundamental and applied biological sciences. Psychology Genes Genetics of eukaryotes. Biological and molecular evolution Genotype & phenotype Histone-Lysine N-Methyltransferase - genetics Humans Infant, Newborn Intellectual deficiency Intellectual Disability - genetics Male Medical genetics Medical sciences Molecular and cellular biology Mutation Proteins Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry SMARCB1 Protein Syndrome Transcription Factors - genetics
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