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False Negative Carrier Screening in Spinal Muscular Atrophy

Sophie Butcher1, Melanie Smith2,3, Ian R Woodcock3,4,5

  • 1Royal Children's Hospital, Melbourne, Victoria, Australia.

Journal of Child Neurology
|December 21, 2019
PubMed
Summary

Even with low-risk genetic carrier testing, infants can be diagnosed with spinal muscular atrophy. This highlights the importance of clinical suspicion and diagnostic testing for spinal muscular atrophy in infants.

Keywords:
SMAcarrier screeningfalse negative testsspinal muscular atrophy

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