Article
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.
Molecular genetics & genomic medicine - 1 May 2018
Radio Francesca Clementina, Di Meglio Lavinia, Agolini Emanuele, Bellacchio Emanuele, Rinelli Martina, Toscano Paolo, Boldrini Renata, Novelli Antonio, Di Meglio Aniello, Dallapiccola Bruno
Abstract excerpt
BACKGROUND: Fowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly-hydrocephaly and multiple pterygium due to fetal akinesia. To date, around 45 cases from 27 families have been reported, and the pathogenic bi-allelic mutations in FLVCR2 gene described in 15 families. The pathogenesis of this condition has not been fully elucidated so far. METHODS: We report on an additional...
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