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Article

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

BMC medical genetics - 18 Oct 2017

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

Abstract excerpt

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: Transcription Star Site-Differentially Methylated Region (TSS-DMR) or in presence of CDKN1C mutations. The isolated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 29047350
DOI: 10.1186/s12881-017-0470-z
PMCID: PMC5648441

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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