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

      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, Barry 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, Andrew; Strauss, K. A. (Oxford Journals, 2015-06-11)
      We describe a novel nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum among 30 children (ages 1.0 to 28 years) from diverse Amish demes. Children with nephrocerebellar syndrome had progressive microcephaly, ...