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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511861/
https://www.ncbi.nlm.nih.gov/pubmed/26070982
http://dx.doi.org/10.1093/brain/awv153

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511861/
https://www.ncbi.nlm.nih.gov/pubmed/26070982
http://dx.doi.org/10.1093/brain/awv153

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