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Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome

Beckwith–Wiedemann syndrome (BWS) is characterized by overgrowth and increased risk of embryonic tumors. It results from alterations in genes controlled by imprinting centers H19DMR (Imprinting Center [IC] 1) and KvDMR (IC2). Strategies for diagnostic confirmation include methylation analysis and CD...

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Dades bibliogràfiques
Publicat a:J Pediatr Genet
Autors principals: Urzua, Abraham, Burattini, Sofia, Pinochet, Constanza, Benavides, Felipe, Repetto, Gabriela M.
Format: Artigo
Idioma:Inglês
Publicat: Georg Thieme Verlag KG 2019
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6824882/
https://ncbi.nlm.nih.gov/pubmed/31687262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1692197
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