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000125803 041__ $$aeng
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000125803 1001_ $$aFarschtschi, Said$$b0
000125803 245__ $$aMultifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.
000125803 260__ $$aHoboken, NJ$$bWiley-Blackwell$$c2016
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000125803 520__ $$aSchwannomatosis is a genetic disorder characterized by the occurrence of multiple peripheral schwannomas. Segmental schwannomatosis is diagnosed when schwannomas are restricted to 1 extremity and is thought to be caused by genetic mosaicism. We studied 5 patients with segmental schwannomatosis through microstructural magnetic resonance neurography and mutation analysis of NF2, SMARCB1, and LZTR1. In 4 of 5 patients, subtle fascicular nerve lesions were detected in clinically unaffected extremities. Two patients exhibited LZTR1 germline mutations. This appears contrary to a simple concept of genetic mosaicism and suggests more complex and heterogeneous mechanisms underlying the phenotype of segmental schwannomatosis than previously thought. Ann Neurol 2016;80:625-628.
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000125803 650_7 $$2NLM Chemicals$$aLZTR1 protein, human
000125803 650_7 $$2NLM Chemicals$$aTranscription Factors
000125803 7001_ $$aMautner, Victor-Felix$$b1
000125803 7001_ $$aPham, Mirko$$b2
000125803 7001_ $$aNguyen, Rosa$$b3
000125803 7001_ $$aKehrer-Sawatzki, Hildegard$$b4
000125803 7001_ $$0P:(DE-He78)81d14a5d74f69c16e5e1cd0144cd955c$$aHutter, Sonja$$b5$$udkfz
000125803 7001_ $$aFriedrich, Reinhard E$$b6
000125803 7001_ $$aSchulz, Alexander$$b7
000125803 7001_ $$aMorrison, Helen$$b8
000125803 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b9
000125803 7001_ $$aBendszus, Martin$$b10
000125803 7001_ $$0P:(DE-He78)4a14b13a372ab8bf853e4b650a6bd98a$$aBäumer, Philipp$$b11$$eLast author
000125803 773__ $$0PERI:(DE-600)2037912-2$$a10.1002/ana.24753$$gVol. 80, no. 4, p. 625 - 628$$n4$$p625 - 628$$tAnnals of neurology$$v80$$x0364-5134$$y2016
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