Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

by Jinks, R.N, Puffenberger, E.G, Baple, E., Harding, B., Crino, P., Fogo, A.B, Wenger, O., Xin, B., Koehler, A.E, McGlincy, M.H, Provencher, M.M, Smith, J.D, Tran, L., Al Turki, S., Chioza, B. A., Cross, H., Harlalka, G. V., Hurles, M. E., Maroofian, R., Heaps, A. D., Morton, M. C., Stempak, L., Hildebrandt, F., Sadowski, C. E., Zaritsky, J., Campellone, K., Morton, D. H., Wang, H., Crosby, A., Strauss, K. A.
Published 2015