Proliferative vasculopathy and hydranencephaly–hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism

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...

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Detalles Bibliográficos
Autores principales: Radio, Francesca Clementina, Di Meglio, Lavinia, Agolini, Emanuele, Bellacchio, Emanuele, Rinelli, Martina, Toscano, Paolo, Boldrini, Renata, Novelli, Antonio, Di Meglio, Aniello, Dallapiccola, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014450/
https://www.ncbi.nlm.nih.gov/pubmed/29500860
http://dx.doi.org/10.1002/mgg3.376

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