SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder

Am J Med Genet A. 2020 Jul;182(7):1829-1831. doi: 10.1002/ajmg.a.61616. Epub 2020 May 15.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / diagnostic imaging
  • Brain / pathology*
  • Child
  • Female
  • Genotype
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / diagnostic imaging
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Homozygote
  • Humans
  • Intracellular Signaling Peptides and Proteins / deficiency
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Mutation, Missense / genetics

Substances

  • Intracellular Signaling Peptides and Proteins
  • SMG9 protein, human

Grants and funding