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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Genet Med
Autores principales: 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
Lenguaje:Inglês
Publicado: 2019
Materias:
Article
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares