VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis

Am J Hematol. 2021 Apr 1;96(4):E121-E123. doi: 10.1002/ajh.26099. Epub 2021 Feb 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • ATPases Associated with Diverse Cellular Activities / genetics*
  • Anemia, Hemolytic, Congenital / genetics*
  • Anemia, Hemolytic, Congenital / pathology
  • Bone Marrow / pathology
  • Brain / diagnostic imaging
  • Brain / pathology
  • Child, Preschool
  • Endosomal Sorting Complexes Required for Transport / genetics*
  • Heterozygote
  • Humans
  • Leber Congenital Amaurosis / genetics
  • Leber Congenital Amaurosis / pathology
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense
  • Neurodevelopmental Disorders / genetics*
  • Neurodevelopmental Disorders / pathology
  • Neuroimaging
  • Reticulocyte Count
  • Vacuolar Proton-Translocating ATPases / genetics*
  • Whole Genome Sequencing

Substances

  • Endosomal Sorting Complexes Required for Transport
  • Vacuolar Proton-Translocating ATPases
  • ATPases Associated with Diverse Cellular Activities
  • VPS4A protein, human