Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2

Clin Dysmorphol. 2021 Jan;30(1):32-35. doi: 10.1097/MCD.0000000000000343.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alleles*
  • Amino Acid Substitution*
  • Coffin-Lowry Syndrome / diagnosis*
  • Coffin-Lowry Syndrome / genetics*
  • Diabetes Mellitus, Type 2 / diagnosis
  • Diabetes Mellitus, Type 2 / genetics
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree
  • Phenotype*
  • Ribosomal Protein S6 Kinases, 90-kDa / genetics*

Substances

  • Ribosomal Protein S6 Kinases, 90-kDa
  • ribosomal protein S6 kinase, 90kDa, polypeptide 3