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Hereditary intraspinal schwannomatosis with SMARCB1 gene mutation: A case report

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 familial inherited intraspinal schw...

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Detalles Bibliográficos
Autores principales: Li, Yu, Chen, Lulu, Shao, Dongqi, Zhang, Binbin, Xie, Shan, Zheng, Xialin, Jiang, Zhiquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169182/
https://www.ncbi.nlm.nih.gov/pubmed/35446994
http://dx.doi.org/10.1002/jcla.24448