Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

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

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

Proliferative Vasculopathy and an Hydranencephalic-hydrocephalic Syndrome: a Neuropathological Study of Two Siblings

(2010) Clive Harper et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): Report of 16 fetal cases

(2009) B. Bessières-Grattagliano et al.   European Journal of Medical Genetics

Fowler Syndrome Presenting as a Dandy-Walker Malformation: A Second Case Report

(2008) Mudher Al-Adnani et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY