Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature

Clin Dysmorphol. 2020 Oct;29(4):217-223. doi: 10.1097/MCD.0000000000000326.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • Alleles
  • Atrophy
  • Cell Cycle Proteins / genetics*
  • Cerebellar Diseases / diagnosis*
  • Cerebellar Diseases / genetics*
  • Child
  • Chromosomal Proteins, Non-Histone / genetics*
  • Codon, Nonsense*
  • Electroencephalography
  • Facies
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Phenotype*

Substances

  • Cell Cycle Proteins
  • Chromosomal Proteins, Non-Histone
  • Codon, Nonsense
  • structural maintenance of chromosome protein 1