Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

BACKGROUND: Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of Beckwith-Wiedemann Syndrome (BWS) in case of loss of methylation at KCNQ1OT1: T...

Descripción completa

Detalles Bibliográficos
Autores principales: Bedeschi, Maria Francesca, Calvello, Mariarosaria, Paganini, Leda, Pezzani, Lidia, Baccarin, Marco, Fontana, Laura, Sirchia, Silvia M., Guerneri, Silvana, Canazza, Lorena, Leva, Ernesto, Colombo, Lorenzo, Lalatta, Faustina, Mosca, Fabio, Tabano, Silvia, Miozzo, Monica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5648441/
https://www.ncbi.nlm.nih.gov/pubmed/29047350
http://dx.doi.org/10.1186/s12881-017-0470-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5648441/
https://www.ncbi.nlm.nih.gov/pubmed/29047350
http://dx.doi.org/10.1186/s12881-017-0470-z

Ejemplares similares