Article
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Neurology - 13 Jan 2015
Smith Miriam J, Isidor Bertand, Beetz Christian, Williams Simon G, Bhaskar Sanjeev S, Richer Wilfrid, O'Sullivan James, Anderson Beverly, Daly Sarah B, Urquhart Jill E, Fryer Alan, Rustad Cecilie F, Mills Samantha J, Samii Amir, du Plessis Daniel, Halliday Dorothy, Barbarot Sebastien, Bourdeaut Franck, Newman William G, Evans D Gareth
Abstract excerpt
OBJECTIVES: We aimed to determine the proportion of individuals in our schwannomatosis cohort whose disease is associated with an LZTR1 mutation. METHODS: We used exome sequencing, Sanger sequencing, and copy number analysis to screen 65 unrelated individuals with schwannomatosis who were negative for a germline NF2 or SMARCB1 mutation. We also screened samples from 39 patients with a unilateral vestibular...
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