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Paper Details

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Brain
46
2015
- and -tubulin, -, -, and -tubulin, Children, Fibroblasts, Galloway-Mowat syndrome, HSP-, HSP-70, HSP-90, Nephrocerebellar syndrome, Purkinje, Recessive nephrocerebellar syndrome, Recombinant, WDR73, WDR73 protein, abnormal extrapyramidal movements, aspartate, aspartate transcarbamylase, atrophic cerebellar hemispheres, c, c.888delT, carbamoyl phosphate, carbamoyl phosphate synthetase 2, children, chromosome 15, cultured embryonic kidney cells, delamination of the lateral geniculate, diencephalic and striatal neuropathology, dihydroorotase, gliosis, glomerulosclerosis, granule cell depletion, heat shock proteins 70 and 90, heterotopia, human, humans, micrencephaly, microcephaly, nephrocerebellar syndrome, nephrosis, optic atrophy, patients, podocyte foot processes, polymicrogyria, renal failure, striatal cholinergic interneuron, striatal cholinergic interneuron loss, stunted folia, visual impairment
Author NameAffiliation
Erik G Puffenberger1 Department of Biology and Biological Foundations of Behaviour Program, Franklin and Marshall College, USA 2 Clinic for Special Children
Emma L BapleRoyal Devon and Exeter NHS Foundation Trust, University of Southampton, UK 5 Wessex Clinical Genetics Service, Princess Anne Hospital
Brian HardingChildren's Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania
Peter B Crino7 Shriners Hospital Paediatric Research Centre, Temple University School of Medicine
Olivia Wenger9 New Leaf Clinic for Special Children, Akron Children's Hospital
Matthew E Hurles12 Wellcome Trust Sanger Institute
Matthew E Hurles12 Wellcome Trust Sanger Institute
Adam D HeapsClinic for Special Children
Friedhelm Hildebrandt17 Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School
Kevin A Strauss1 Department of Biology and Biological Foundations of Behaviour Program, Franklin and Marshall College, USA 2 Clinic for Special Children, USA 21 Lancaster General Hospital
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