RBM28 deficiency

Synonym(s)
- Alopecia, neurologic defects and endocrinopathy (ANE) syndrome
Type

Disease
External link(s)
- Orphanet
Gene
- RBM28 / RNA Binding Motif Protein 28
  7q32.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- RNA-binding protein 28
Disease group(s)
- 16.5 Other disorders of ribosomal biogenesis