A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

Beckwith–Wiedemann syndrome (BWS; OMIM #130650) is an overgrowth syndrome caused by different genetic or epigenetic alterations affecting imprinted regions on chromosome 11p15.5. Here we report a family with multiple offspring affected with BWS including giant omphalocoeles in which maternal transmi...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Eur J Hum Genet
Autores principales: Beygo, Jasmin, Joksic, Ivana, Strom, Tim M, Lüdecke, Hermann-Josef, Kolarova, Julia, Siebert, Reiner, Mikovic, Zeljko, Horsthemke, Bernhard, Buiting, Karin
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4989213/
https://ncbi.nlm.nih.gov/pubmed/26839037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.3
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares