Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.
Francesca Clementina RadioLavinia Di MeglioEmanuele AgoliniEmanuele BellacchioMartina RinelliPaolo ToscanoRenata BoldriniAntonio NovelliAniello Di MeglioBruno DallapiccolaPublished in: Molecular genetics & genomic medicine (2018)
Our data suggest the hypothesis of heme deficiency as the major pathogenic mechanism of Fowler syndrome.