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Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome

Abstract Most Beckwith–Wiedemann syndrome (BWS) cases are sporadic; nonetheless, imprinting center 1 (IC1) microdeletions have been suggested as a rare cause of familial BWS, with ~ 20 reported cases. We report 13 cases from nine families with IC1 microdeletions. Recurrent 1.4-kb, 1.8-kb, and 2.2-kb...

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Principais autores: Qiliang Ding, Zinandre Stander, Brandon J. Elizalde, Erica S. Stelmach, Jaime C. Duncan, Noemi Vidal-Folch, Linda Hasadsri, Kandelaria M. Rumilla, Wei Shen
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-04-01
Serier:Clinical Epigenetics
Fag:
Beckwith–Wiedemann syndrome
BWS
Familial BWS
Imprinting center 1
IC1 microdeletion
IC1 hypermethylation
Online adgang:https://doi.org/10.1186/s13148-025-01873-5
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