Associated Papers
MFSD7c functions as a transporter of choline at the blood-brain barrier.
Nguyen XTA et al.
Cell Research, 2024
38302740 (PubMed )
Supplement: 41422_2023_923_MOESM15_ESM.xlsx › List_of_missense_mutations
Structural and molecular basis of choline uptake into the brain by FLVCR2.
Cater RJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
De Luca C et al.
Clinical Genetics, 2020
Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.
Kalailingam P et al.
The Journal of Clinical Investigation, 2020
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.
Radio FC et al.
Molecular Genetics & Genomic Medicine, 2018
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
Thomas S et al.
Human Mutation, 2010
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