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Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
We report on a child with prenatal findings of increased nuchal translucency, polydramnios, ascites, and overgrowth. At birth, she presented length >97° centile, minor facial anomalies, megalencephaly, and Wolff–Parkinson–White syndrome. Whole‐exome sequencing showed a pathogenic variant in the N...
Autores principales: | Beltrami, Benedetta, Cerasani, Jacopo, Consales, Alessandra, Villa, Roberta, Resta, Nicoletta, Loconte, Daria Carmela, Boito, Simona, Caschera, Luca, Bassi, Laura, Colombo, Lorenzo, Iascone, Maria, Bedeschi, Maria Francesca |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393876/ https://www.ncbi.nlm.nih.gov/pubmed/36017115 http://dx.doi.org/10.1002/ccr3.6256 |
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