Browsing Harvard Medical School by Keyword "cerebellar hypoplasia"

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    • 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. (Oxford University Press, 2015)
      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, ...