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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Pediatr Genet
Egile Nagusiak: Urzua, Abraham, Burattini, Sofia, Pinochet, Constanza, Benavides, Felipe, Repetto, Gabriela M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Georg Thieme Verlag KG 2019
Sarrera elektronikoa: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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