About
Contact & Profiles
A5097766958
Research Areas
- Meningioma and schwannoma management
- Neurofibromatosis and Schwannoma Cases
- Vascular Malformations Diagnosis and Treatment
Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
2022
10.1016/j.gendis.2025.101615
article
EN
cc-by
Genes & Diseases
2025-03-01
ABSTRACT NF2-related schwannomatosis is an autosomal dominant syndrome that predisposes to the development of benign tumors nervous system. Schwannomas, particularly bilateral vestibular schwannomas (VS), are most characteristic features disease. These caused by bi-allelic inactivation NF2 gene in a cell Schwann lineage. Our current understanding molecular pathogenesis gene, as well new effective therapies hampered absence human non-perishable cell-based bearing distinct pathogenic variants....
10.1101/2022.12.14.520389
preprint
EN
cc-by-nc-nd
bioRxiv (Cold Spring Harbor Laboratory)
2022-12-14
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