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...

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Опубликовано в: :BMC Med Genet
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2017
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5648441/
https://ncbi.nlm.nih.gov/pubmed/29047350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0470-z
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