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...
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| Autori principali: | , |
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Elsevier,
2022-01-01T00:00:00Z.
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A1234.567 |
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