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Article

Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.

Molecular genetics & genomic medicine - 1 Oct 2021

Sassi Hela, Elaribi Yasmina, Jilani Houweyda, Rejeb Imen, Hizem Syrine, Sebai Molka, Kasdallah Nadia, Bouthour Habib, Hannachi Samia, Beygo Jasmin, Saad Ali, Buiting Karin, H'mida Ben-Brahim Dorra, BenJemaa Lamia

Abstract excerpt

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration and rarely associated with tumors compared to paternal uniparental disomy of chromosome 11 (UPD(11)pat) and gain of methylation of imprinting center 1. METHODS: Our study aimed...

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Identifiers

PMID: 34510813
DOI: 10.1002/mgg3.1796
PMCID: PMC8580078

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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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