Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome
Author:
Funder
NMRC Singapore
Ministry of Education - Singapore
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://www.jci.org/articles/view/136727/files/pdf
Reference45 articles.
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2. Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome)
3. Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): Report of 16 fetal cases
4. Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing;Lalonde;Hum Mutat,2010
5. Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism
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