Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations ofWDR73-Reference-Cited by-同舟云学术

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations ofWDR73

Published:2015-06-11 Issue:8 Volume:138 Page:2173-2190
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:Brain

Author:

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.

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/138/8/2173/13800182/awv153.pdf

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