Učitavanje...

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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:J Pediatr Genet
Glavni autori: Urzua, Abraham, Burattini, Sofia, Pinochet, Constanza, Benavides, Felipe, Repetto, Gabriela M.
Format: Artigo
Jezik:Inglês
Izdano: Georg Thieme Verlag KG 2019
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!