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

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

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...

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Main Authors: Jinks, R.N (Author), Puffenberger, E.G (Author), Baple, E. (Author), Harding, B. (Author), Crino, P. (Author), Fogo, A.B (Author), Wenger, O. (Author), Xin, B. (Author), Koehler, A.E (Author), McGlincy, M.H (Author), Provencher, M.M (Author), Smith, J.D (Author), Tran, L. (Author), Al Turki, S. (Author), Chioza, B. A. (Author), Cross, H. (Author), Harlalka, G. V. (Author), Hurles, M. E. (Author), Maroofian, R. (Author), Heaps, A. D. (Author), Morton, M. C. (Author), Stempak, L. (Author), Hildebrandt, F. (Author), Sadowski, C. E. (Author), Zaritsky, J. (Author), Campellone, K. (Author), Morton, D. H. (Author), Wang, H. (Author), Crosby, A. (Author), Strauss, K. A. (Author)
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Language:English
Published: 2015-08.
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