Evidence for anticipation in Beckwith-Wiedemann syndrome

European Journal of Human Genetics

Volumn 21, Issue 12, 2013, Pages 1344-1348

  Berland, Siren ^a   Appelbäck, Mia ^a,b   Bruland, Ove ^a   Beygo, Jasmin ^c   Buiting, Karin ^c   Mackay, Deborah J G ^d,e,f   Karen Temple, I ^d,e,f   Houge, Gunnar ^a,b  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF BERGEN   (Norway)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^e UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^f SALISBURY DISTRICT HOSPITAL   (United Kingdom)

Author keywords

anticipation; Beckwith Wiedemann syndrome; H19; IGF2; imprinting

Indexed keywords

OCTAMER TRANSCRIPTION FACTOR 4; TRANSCRIPTION FACTOR CTCF;

ADOLESCENT; ALLELE; ARTICLE; BECKWITH WIEDEMANN SYNDROME; BINDING SITE; CASE REPORT; CHILD; CONTROLLED STUDY; DEMETHYLATION; FEMALE; GENE LOCUS; GENE SEQUENCE; HUMAN; MALE; METHYLATION; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; TALL STATURE;

ADOLESCENT; ALLELES; BECKWITH-WIEDEMANN SYNDROME; BINDING SITES; CHILD; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; FEMALE; GENOMIC IMPRINTING; GENOMIC STRUCTURAL VARIATION; HUMANS; INSULIN-LIKE GROWTH FACTOR II; MALE; MUTATION; OCTAMER TRANSCRIPTION FACTOR-3; RNA, LONG NONCODING;

EID: 84887628373     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.71     Document Type: Article

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