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Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals

16 May 2021

Abstract excerpt

The congenital imprinting disorder, Beckwith-Wiedemann syndrome (BWS) is associated with variable clinical features including hemihypertrophy/lateralised overgrowth (LO) and embryonal tumour predisposition. BWS-associated (epi)genetic alterations occur in a subset of patients with isolated LO (ILO), leading to the concept of BWS spectrum disorder (BWSp). We investigated the relationship between clinical features...

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PMID: 33993487
DOI: 10.1111/cge.13997

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