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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...
Autores principales: | de Vasconcelos Gaspar, Andreia, Branco, Miguel, Galhano, Eulália, Ramos, Fabiana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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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 |
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