TY  - GEN
AU  - Poole,Rebecca L
AU  - Leith,Donald J
AU  - Docherty,Louise E
AU  - Shmela,Mansur E
AU  - Gicquel,Christine
AU  - Splitt,Miranda
AU  - Temple,I Karen
AU  - Mackay,Deborah J G
TI  - Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1
SN  - 1476-5438
PY  - 2012///0507
KW  - Alleles
KW  - Base Sequence
KW  - Beckwith-Wiedemann Syndrome
KW  - diagnosis
KW  - Binding Sites
KW  - genetics
KW  - Child, Preschool
KW  - DNA Methylation
KW  - Gene Order
KW  - Genomic Imprinting
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Insulin-Like Growth Factor II
KW  - Male
KW  - Mutation
KW  - Octamer Transcription Factors
KW  - metabolism
KW  - Pedigree
KW  - Phenotype
KW  - Promoter Regions, Genetic
KW  - RNA, Long Noncoding
KW  - RNA, Untranslated
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2011.166
ER  -