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

Poole, Rebecca L

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. [electronic resource] - European journal of human genetics : EJHG Feb 2012 - 240-3 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/ejhg.2011.166 doi


Alleles
Base Sequence
Beckwith-Wiedemann Syndrome--diagnosis
Binding Sites--genetics
Child, Preschool
DNA Methylation
Gene Order
Genomic Imprinting
Genotype
Humans
Infant
Insulin-Like Growth Factor II--genetics
Male
Mutation
Octamer Transcription Factors--metabolism
Pedigree
Phenotype
Promoter Regions, Genetic
RNA, Long Noncoding
RNA, Untranslated--genetics