BMS1-related aplasia cutis congenita

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- BMS1 / BMS1 Ribosome Biogenesis Factor
  10q11.21
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Ribosome biogenesis factor
Disease group(s)
- 16.5 Other disorders of ribosomal biogenesis