Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants

Clin Genet. 2020 Nov;98(5):520-521. doi: 10.1111/cge.13838. Epub 2020 Sep 9.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Hydranencephaly / genetics*
  • Hydranencephaly / pathology
  • Male
  • Membrane Transport Proteins / genetics*
  • Phenotype
  • Receptors, Virus / genetics*
  • Young Adult

Substances

  • FLVCR2 protein, human
  • Membrane Transport Proteins
  • Receptors, Virus

Supplementary concepts

  • Encephaloclastic Proliferative Vasculopathy