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Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disease, characterized by macrosomia, congenital malformations and tumor predisposition, associated with genetic and epigenetic alterations in the 11p15 region. Most cases are diagnosed after birth, with prenatal diagnosis being difficult and depen...

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Detalles Bibliográficos
Autores principales: de Vasconcelos Gaspar, Andreia, Branco, Miguel, Galhano, Eulália, Ramos, Fabiana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9586847/
https://www.ncbi.nlm.nih.gov/pubmed/36281281
http://dx.doi.org/10.1016/j.radcr.2022.09.066