Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

European Journal of Human Genetics

Volumn 20, Issue 2, 2012, Pages 240-243

  Poole, Rebecca L ^a,b,c   Leith, Donald J ^a,b,c   Docherty, Louise E ^a,b,c   Shmela, Mansur E ^d   Gicquel, Christine ^d   Splitt, Miranda ^e   Temple, I Karen ^a,b,c   MacKay, Deborah J G ^a,b,c  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

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

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^d BAKER IDI HEART AND DIABETES INSTITUTE   (Australia)

^e INSTITUTE OF HUMAN GENETICS   (United Kingdom)

Author keywords

Beckwith Wiedemann syndrome; DNA methylation; IGF2 H19 ICR1; imprinting disorder; OCT binding site

Indexed keywords

NUCLEAR PROTEIN; OCTAMER TRANSCRIPTION FACTOR; PROTEIN H19; SOMATOMEDIN B; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHILD; DNA BINDING MOTIF; DNA METHYLATION; DNA SEQUENCE; GEL MOBILITY SHIFT ASSAY; GENE MUTATION; GENOME IMPRINTING; HUMAN; IMPRINTING CONTROL REGION 1; MALE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BINDING; PUBERTY;

ALLELES; BASE SEQUENCE; BECKWITH-WIEDEMANN SYNDROME; BINDING SITES; CHILD, PRESCHOOL; DNA METHYLATION; GENE ORDER; GENOMIC IMPRINTING; GENOTYPE; HUMANS; INFANT; INSULIN-LIKE GROWTH FACTOR II; MALE; MUTATION; OCTAMER TRANSCRIPTION FACTORS; PEDIGREE; PHENOTYPE; PROMOTER REGIONS, GENETIC; RNA, LONG UNTRANSLATED; RNA, UNTRANSLATED;

EID: 84855812755     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.166     Document Type: Article

References (11)

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