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

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

(2015) M. Kvarnung et al.   CLINICAL GENETICS

The TOPCONS web server for consensus prediction of membrane protein topology and signal peptides

(2015) Konstantinos D. Tsirigos et al.   NUCLEIC ACIDS RESEARCH

Template-based protein structure modeling using the RaptorX web server

(2012) Morten Källberg et al.   Nature Protocols

Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome)

(2010) Esther Meyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital Hydrocephalus-Hydrencephaly in Five Siblings, with Autopsy Studies: a New Disease

(2010) Malcolm Fowler et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

(2010) Sophie Thomas et al.   HUMAN MUTATION

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

(2010) Emilie Lalonde et al.   HUMAN MUTATION

The Fowler Syndrome-Associated Protein FLVCR2 Is an Importer of Heme

(2010) S. P. Duffy et al.   MOLECULAR AND CELLULAR BIOLOGY

Fowler syndrome-A clinical, radiological, and pathological study of 14 cases

(2009) Denise Williams et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A