De novo mutations in the genome organizer CTCF cause intellectual disability

American Journal of Human Genetics

Volumn 93, Issue 1, 2013, Pages 124-131

  Gregor, Anne ^a   Oti, Martin ^b   Kouwenhoven, Evelyn N ^b   Hoyer, Juliane ^a   Sticht, Heinrich ^a   Ekici, Arif B ^a   Kjaergaard, Susanne ^c   Rauch, Anita ^d   Stunnenberg, Hendrik G ^e   Uebe, Steffen ^a   Vasileiou, Georgia ^a   Reis, André ^a   Zhou, Huiqing ^b,e   Zweier, Christiane ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Rigshospitalet   (Denmark)

^d UNIVERSITY OF ZURICH   (Switzerland)

^e RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR CTCF; TRANSCRIPTOME;

ARTICLE; CASE REPORT; CHILD; CHROMATIN; COGNITION; DE NOVO MUTATION; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE CONTROL; GENE DELETION; GENE EXPRESSION; GENETIC SCREENING; GENOME ANALYSIS; GROWTH RETARDATION; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; MISSENSE MUTATION; MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; VERTEBRATE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMATIN; DNA MUTATIONAL ANALYSIS; ENHANCER ELEMENTS, GENETIC; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENOME, HUMAN; HAPLOINSUFFICIENCY; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUTATION, MISSENSE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; REPRESSOR PROTEINS; SIGNAL TRANSDUCTION;

VERTEBRATA;

EID: 84880286574     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.05.007     Document Type: Article

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