Combination of thrombocytopenia and hypocalcemia may indicate the possibility of Stormorken Syndrome with STIM1 mutation

Pediatr Neonatol. 2022 Mar;63(2):198-199. doi: 10.1016/j.pedneo.2021.08.013. Epub 2021 Oct 9.
No abstract available

Publication types

  • Letter

MeSH terms

  • Blood Platelet Disorders
  • Dyslexia
  • Erythrocytes, Abnormal
  • Humans
  • Hypocalcemia* / genetics
  • Ichthyosis
  • Migraine Disorders
  • Miosis / genetics
  • Muscle Fatigue
  • Mutation
  • Neoplasm Proteins
  • Spleen / abnormalities
  • Stromal Interaction Molecule 1 / genetics
  • Thrombocytopenia* / genetics

Substances

  • Neoplasm Proteins
  • STIM1 protein, human
  • Stromal Interaction Molecule 1

Supplementary concepts

  • Stormorken Syndrome