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Article

Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith-Wiedemann syndrome.

American journal of medical genetics. Part A - 1 Oct 2021

Sun Feifei, Hara Satoshi, Tomita Chiyoko, Tanoue Yuka, Yatsuki Hitomi, Higashimoto Ken, Soejima Hidenobu

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder caused by (epi)genetic alterations. The incidence of monozygotic (MZ) twins in BWS is higher than in the general population. Most MZ twins with BWS are female and have phenotypical discordance: one twin is clinically diagnosed with BWS, while the other shows a mild or normal phenotype. The most frequent (epi)genetic alteration in MZ twins is loss of...

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Identifiers

PMID: 34037318
DOI: 10.1002/ajmg.a.62364

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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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