Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

Clinical Genetics

Volumn 82, Issue 3, 2012, Pages 248-255

  Halgren, C ^a   Kjaergaard, S ^b   Bak, M ^a   Hansen, C ^a   El Schich, Z ^a   Anderson, C M ^a   Henriksen, K F ^a   Hjalgrim, H ^c   Kirchhoff, M ^b   Bijlsma, E K ^d   Nielsen, M ^d   den Hollander, N S ^d   Ruivenkamp, C A L ^d   Isidor, B ^e   Le Caignec, C ^e   Zannolli, R ^f   Mucciolo, M ^f   Renieri, A ^f   Mari, F ^f   Anderlid, B M ^g   Andrieux, J ^h   Dieux, A ⁱ   Tommerup, N ^a   Bache, I ^a   more..

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b Rigshospitalet   (Denmark)

^c Klinik for Børn   (Denmark)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e NANTES UNIVERSITY HOSPITAL   (France)

^f UNIVERSITY OF SIENA   (Italy)

^g KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^h LILLE UNIVERSITY HOSPITAL   (France)

ⁱ Clinique de Genetique Medicale   (France)

Author keywords

ARID1B; Autism spectrum disorder; Chromosome 6q25; Corpus callosum; Intellectual disability; Next generation mate pair sequencing; Speech impairment; Translocation

Indexed keywords

ARID1B PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTISM; CHILD; CHROMOSOME BREAKAGE; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; FEMALE; GENE EXPRESSION REGULATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MICROARRAY ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SPEECH DISORDER;

ABNORMALITIES, MULTIPLE; ADULT; AGENESIS OF CORPUS CALLOSUM; AUTISTIC DISORDER; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; HAPLOINSUFFICIENCY; HUMANS; INTELLECTUAL DISABILITY; MALE; MIDDLE AGED; SPEECH DISORDERS; TRANSCRIPTION FACTORS;

EID: 84865071031     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01755.x     Document Type: Article

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