Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis

Acta Neuropathol. 2023 Dec;146(6):857-860. doi: 10.1007/s00401-023-02641-6. Epub 2023 Oct 11.

Authors

Affiliations

¹ Department of Pathology, University of California, San Francisco, San Francisco, CA, USA.
² Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
³ Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA. line.jacques@ucsf.edu.
⁴ Department of Pathology, University of California, San Francisco, San Francisco, CA, USA. david.solomon@ucsf.edu.

No abstract available

Publication types

Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural

MeSH terms

Humans
INDEL Mutation
Neurilemmoma* / genetics
Neurofibromatoses* / genetics
SOXE Transcription Factors / genetics
Skin Neoplasms* / genetics

Substances

SOX10 protein, human
SOXE Transcription Factors

Supplementary concepts

Schwannomatosis

Grants and funding

P50 CA097257/CA/NCI NIH HHS/United States