A small de novo 16q24.1 duplication in a woman with severe clinical features.
Data and Resources
Additional Info
| Field | Value |
|---|---|
| Source | ISSN: 1769-7212 |
| Author | Quéméner-Redon, Sylvia, Bénech, Caroline, Audebert-Bellanger, Séverine, Friocourt, Gaëlle, Planes, Marc, Parent, Philippe, Férec, Claude |
| Maintainer | CCSD |
| Last Updated | May 14, 2026, 11:56 (UTC) |
| Created | May 14, 2026, 11:56 (UTC) |
| Identifier | inserm-00788405 |
| Language | en |
| Rights | https://about.hal.science/hal-authorisation-v1/ |
| contributor | Laboratoire de Génétique Moléculaire et d'Histocompatibilité [Brest] ; Université de Brest (UBO EPE)-Hôpital Morvan [Brest]-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest) |
| creator | Quéméner-Redon, Sylvia |
| date | 2013-01-17T00:00:00 |
| harvest_object_id | 51ef5f24-ee8b-4ca4-9e46-09a94dec8201 |
| harvest_source_id | 3374d638-d20b-4672-ba96-a23232d55657 |
| harvest_source_title | test moissonnage SELUNE |
| metadata_modified | 2026-04-07T00:00:00 |
| relation | info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ejmg.2013.01.001 |
| set_spec | type:ART |