Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
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| Description | scientific article published on 29 August 2016 |
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author: Gillian I. Rice Sam Griffiths-Jones Katrin Ounap Sarju G Mehta Carolina Uggenti Duccio M. Cordelli Mathieu Rodero Paul Kasher John H Livingston Simon G Williams Adeline Vanderver Christopher J Kershaw Patrick Revy Roberta Battini Raphael Schiffmann David Cassiman Emma Wakeling Charles M Lourenço Himanshu Goel Raymond T O'Keefe Monika Haubitz Marjo van der Knaap Jon Stone Graham D. Pavitt Yanick J. Crow |
| Publication date | August 29, 2016 |
| Language | English |
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