TSR2 ribosome maturation factor deficiency

Synonym(s)
- Diamond-Blackfan anemia type 14
Type

Disease
External link(s)
- IEMbase
Gene
- TSR2 / TSR2 Small Subunit Processome Component
  Xp11.22
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- TSR2 small subunit processome component
Disease group(s)
- 16.5 Other disorders of ribosomal biogenesis