Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
Jinks, Robert N, Puffenberger, Erik G, Baple, Emma, Harding, Brian, Crino, Peter, Fogo, Agnes B, Wenger, Olivia, Xin, Baozhong, Koehler, Alanna E, McGlincy, Madeleine H, Provencher, Margaret M, Smith, Jeffrey D, Tran, Linh, Al Turki, Saeed, Chioza, Barry A, Cross, Harold, Harlalka, Gaurav V, Hurles, Matthew E, Maroofian, Reza, Heaps, Adam D, Morton, Mary C, Stempak, Lisa, Hildebrandt, Friedhelm, Sadowski, Carolin E, Zaritsky, Joshua, Campellone, Kenneth, Morton, D Holmes, Wang, Heng, Crosby, Andrew, Strauss, Kevin A
Published in Brain (London, England : 1878) (01.08.2015)
Published in Brain (London, England : 1878) (01.08.2015)
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