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

• Main Authors: Maria Francesca Bedeschi (Author), Mariarosaria Calvello (Author), Leda Paganini (Author), Lidia Pezzani (Author), Marco Baccarin (Author), Laura Fontana (Author), Silvia M. Sirchia (Author), Silvana Guerneri (Author), Lorena Canazza (Author), Ernesto Leva (Author), Lorenzo Colombo (Author), Faustina Lalatta (Author), Fabio Mosca (Author), Silvia Tabano (Author), Monica Miozzo (Author)
• Format: Book
• Published: BMC, 2017-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 KCN...