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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:BMC Med Genet
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2017
Θέματα:
Research Article
Διαθέσιμο Online: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
Ετικέτες: Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!

Παρόμοια τεκμήρια