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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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| Pubblicato in: | J Pediatr Genet |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Georg Thieme Verlag KG
2019
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| Accesso online: | 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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