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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Main Authors: Heather M. Lucas (Author), Mojirayo A. Sarumi (Author)
Format: Book
Published: Elsevier, 2022-01-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
Copy 1 Available