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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Detaylı Bibliyografya
Yayımlandı:Brain
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2015
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4511861/
https://ncbi.nlm.nih.gov/pubmed/26070982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv153
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