Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. [electronic resource]
Producer: 20120507Description: 240-3 p. digitalISSN:- 1476-5438
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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