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Case report of pregnancy management and genetic evaluation after negative carrier screening for spinal muscular atrophy in an affected family
BACKGROUND: Screening for spinal muscular atrophy (SMA) is recommended for all pregnant women; however, interpreting the results of carrier screening in the context of family history can be challenging. CASE: We report the case of a 28-year-old woman (G4P3001) with two previous children affected wit...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8718837/ https://www.ncbi.nlm.nih.gov/pubmed/35004188 http://dx.doi.org/10.1016/j.crwh.2021.e00377 |