Homozygosity for the SMN2 c.859G>C Allele Accounts for the Phenotypic and Genotypic Discordances Seen in an Uncommon Case of Spinal Muscular Atrophy Revealed by Newborn Screening

Case Presenter(s)

• 

  Adriel Y. Kim, PhD (she/her/hers)

  Laboratory Genetics and Genomics fellow
  Nationwide Children's Hospital
  Powell, Ohio, United States