A 3.2Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia

European Journal of Human Genetics

Volumn 16, Issue 3, 2008, Pages 312-319

  Gilling, Mette ^a   Lauritsen, Marlene Briciet ^b,c   Møller, Morten ^a   Henriksen, Karen Friis ^a   Vicente, Astrid ^d,e   Oliveira, Guiomar ^f   Cintin, Christina ^g   Eiberg, Hans ^a   Andersen, Paal Skyt ^h   Mors, Ole ^b   Rosenberg, Thomas ⁱ   Brøndum Nielsen, Karen ⁱ   Cotterill, Rodney M J ^j   Lundsteen, Claes ^k   Ropers, Hans Hilger ^l   Ullmann, Reinhard ^l   Bache, Iben ^a   Tümer, Zeynep ^a   Tommerup, Niels ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c AARHUS UNIVERSITY   (Denmark)

^d INSTITUTO GULBENKIAN DE CIÊNCIA   (Portugal)

^e NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^f CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^g HILLERØD HOSPITAL   (Denmark)

^h STATENS SERUM INSTITUT   (Denmark)

ⁱ JOHN F KENNEDY INSTITUTE   (Denmark)

^j TECHNICAL UNIVERSITY OF DENMARK   (Denmark)

^k Rigshospitalet   (Denmark)

^l MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

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Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 18Q; CHROMOSOME 4Q; CHROMOSOME 5Q; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 18; CHROMOSOME TRANSLOCATION 5; CLINICAL ARTICLE; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENE TRANSLOCATION; GENETIC IDENTIFICATION; GENETIC SUSCEPTIBILITY; HEART ATRIUM SEPTUM DEFECT; HUMAN; INFANTILE AUTISM; MULTIFACTORIAL INHERITANCE; MYOPIA; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; AUTISM; CASE REPORT; CHILD; CHROMOSOME 18; GENETICS; IN SITU HYBRIDIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; AUTISTIC DISORDER; CHILD; CHROMOSOMES, HUMAN, PAIR 18; FEMALE; HUMANS; IN SITU HYBRIDIZATION; MYOPIA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 39749161050     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201985     Document Type: Article

References (56)