Beckwith-Wiedemann syndrome caused by maternally-inherited mutation of an OCT-binding motif in the IGF2/H19 imprinting control region, ICR1.
Data and Resources
Additional Info
| Field | Value |
|---|---|
| Source | ISSN: 1018-4813 |
| Author | Mackay, Deborah Jg, Poole, Rebecca L, Leith, Donald J, Docherty, Louise E, Shmela, Mansur E, Gicquel, Christine, Splitt, Miranda, Temple, I. Karen |
| Maintainer | CCSD |
| Last Updated | May 27, 2026, 04:50 (UTC) |
| Created | May 27, 2026, 04:50 (UTC) |
| Identifier | hal-00673674 |
| Language | en |
| Rights | https://about.hal.science/hal-authorisation-v1/ |
| contributor | Human Genetics and Genomic Medicine group, Faculty of Medicine ; Human Genetics and Genomic Medicine group, Faculty of Medicine |
| creator | Mackay, Deborah Jg |
| date | 2011-08-24T00:00:00 |
| harvest_object_id | f78d17a8-c0bc-4a89-8b2d-5aa447253ab8 |
| harvest_source_id | 3374d638-d20b-4672-ba96-a23232d55657 |
| harvest_source_title | test moissonnage SELUNE |
| metadata_modified | 2024-07-08T00:00:00 |
| relation | info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2011.166 |
| set_spec | type:ART |