Hereditary intraspinal schwannomatosis with SMARCB1 gene mutation: A case report.
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DOI: 10.1002/jcla.24448
Abstract: BACKGROUND Schwannomatosis is the third subtype of neurofibromatosis. Schwannomatosis, particularly the familial variant, is uncommon. Recently, germline mutations of the SMARCB1 gene have been found to cause schwannomatosis. In this report, we describe a case of… read more here.
Keywords: smarcb1 gene; intraspinal schwannomatosis; case; gene ... See more keywords