RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome

Mol Genet Genomic Med. 2021 Jun;9(6):e1669. doi: 10.1002/mgg3.1669. Epub 2021 May 3.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Cafe-au-Lait Spots / genetics*
  • Cafe-au-Lait Spots / pathology
  • Female
  • Frameshift Mutation
  • Humans
  • Moyamoya Disease / genetics*
  • Moyamoya Disease / pathology
  • Syndrome
  • Ubiquitin-Protein Ligases / genetics*
  • Young Adult

Substances

  • RNF213 protein, human
  • Ubiquitin-Protein Ligases
  • Adenosine Triphosphatases

Supplementary concepts

  • Legius syndrome