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Article

The significance of molecular studies in the long-term follow-up of children with beckwith- wiedemann syndrome.

The Turkish journal of pediatrics - 1 Jan 2000

Gizewska Maria, Wilk Malgorzata, Patalan Michal, Mackay Deborah, Peregud-Pegorzelski Jaroslow, Gawrych Elzbieta, Walczak Mieczyslaw, Petriczko Elzbieta, Brodkiewicz Andrzej

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is a congenital disorder of imprinting caused by epimutations and mutations affecting two imprinted loci on chromosome 11p15. Its clinical features are heterogeneous, including macrosomia, macroglossia, hemihyperplasia, abdominal wall defects, neonatal hypoglycemia, and increased risk of embryonal tumors such as Wilms tumor, adrenocortical carcinoma, hepatoblastoma, and...

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PMID: 24911853

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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