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

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

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...

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Bibliographic Details
Main Authors: Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M. Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano, Monica Miozzo
Format: Article
Language:English
Published: BMC 2017-10-01
Series:BMC Medical Genetics
Subjects:
Abdominal wall defects
Beckwith-Wiedemann syndrome
CDKN1C
Genomic imprinting
KCNQ1OT1:TSS-DMR
Omphalocele
Online Access:http://link.springer.com/article/10.1186/s12881-017-0470-z

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http://link.springer.com/article/10.1186/s12881-017-0470-z

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