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Article

Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.

Journal of medical genetics - 21 May 2024

Higashimoto Ken, Sun Feifei, Imagawa Eri, Saida Ken, Miyake Noriko, Hara Satoshi, Yatsuki Hitomi, Kubiura-Ichimaru Musashi, Fujita Atsushi, Mizuguchi Takeshi, Matsumoto Naomichi, Soejima Hidenobu

Abstract excerpt

Background Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder caused by (epi)genetic alterations at 11p15. Because approximately 20% of patients test negative via molecular testing of peripheral blood leukocytes, the concept of Beckwith-Wiedemann spectrum (BWSp) was established to encompass a broader cohort with diverse and overlapping phenotypes. The prevalence of other overgrowth syndromes concealed...

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Identifiers

PMID: 38228391
DOI: 10.1136/jmg-2023-109621

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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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