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10.1093/brain/awv153

http://scihub22266oqcxt.onion/10.1093/brain/awv153
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C4511861!4511861!26070982
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suck abstract from ncbi


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pmid26070982      Brain 2015 ; 138 (8): 2173-90
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  • Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73 #MMPMID26070982
  • Jinks RN; Puffenberger EG; Baple E; Harding B; Crino P; Fogo AB; Wenger O; Xin B; Koehler AE; McGlincy MH; Provencher MM; Smith JD; Tran L; Al Turki S; Chioza BA; Cross H; Harlalka GV; Hurles ME; Maroofian R; Heaps AD; Morton MC; Stempak L; Hildebrandt F; Sadowski CE; Zaritsky J; Campellone K; Morton DH; Wang H; Crosby A; Strauss KA
  • Brain 2015[Aug]; 138 (8): 2173-90 PMID26070982show ga
  • Galloway-Mowat syndrome (GMS) is a neurodevelopmental disorder characterized by microcephaly, cerebellar hypoplasia, nephrosis, and profound intellectual disability. Jinks et al. extend the GMS spectrum by identifying a novel nephrocerebellar syndrome with selective striatal cholinergic interneuron loss and complete lateral geniculate nucleus delamination, caused by a frameshift mutation in WDR73.
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