Androgenetic chimerism as an etiology for Beckwith–Wiedemann syndrome: diagnosis and management

PURPOSE: Beckwith–Wiedemann syndrome (BWS) is a human genomic imprinting disorder characterized by lateralized overgrowth, macroglossia, abdominal wall defects, congenital hyperinsulinism, and predisposition to embryonal tumors. One of the molecular etiologies underlying BWS is paternal uniparental...

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Publicado en:Genet Med
Main Authors: Sheppard, Sarah E., Lalonde, Emilie, Adzick, N. Scott, Beck, Anita E., Bhatti, Tricia, De Leon, Diva D., Duffy, Kelly A., Ganguly, Arupa, Hathaway, Evan, Ji, Jianling, Linn, Rebecca, Lord, Katherine, Randolph, Linda M., Sajorda, Brian, States, Lisa, Conlin, Laura K., Kalish, Jennifer M.
Formato: Artigo
Idioma:Inglês
Publicado: 2019
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7848850/
https://ncbi.nlm.nih.gov/pubmed/31147633
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0551-9
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