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

@inproceedings{Jinks2015RecessiveNS,
  title={Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73},
  author={Robert N. Jinks and Erik G Puffenberger and Emma Louise Baple and Brian N. Harding and Peter B. Crino and Agnes B. Fogo and Olivia Wenger and Baozhong Xin and Alanna E. Koehler and Madeleine H. McGlincy and Margaret M. Provencher and Jeffrey D. Smith and Linh Hoang Tran and Saeed Al Turki and Barry A Chioza and Harold E Cross and Gaurav Vijay Harlalka and Matthew E. Hurles and Reza Maroofian and Adam D. Heaps and Mary C. Morton and Lisa M Stempak and Friedhelm Hildebrandt and Carolin Eva Sadowski and Joshua Jacob Zaritsky and Kenneth G Campellone and D. Holmes Morton and Heng Wang and Andrew H. Crosby and Kevin A Strauss},
  booktitle={Brain : a journal of neurology},
  year={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, visual impairment, stagnant psychomotor development, abnormal extrapyramidal movements and nephrosis. Fourteen died between ages 2.7 and 28 years, typically from renal failure. Post-mortem studies revealed (i) micrencephaly without polymicrogyria or heterotopia; (ii) atrophic… CONTINUE READING
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