Associated Papers
Central nervous system schwannoma, VGLL-fused (EWSR1::VGLL1 fusion) with neuroblastoma-like cell dense areas in the frontal lobe of a young man with schwannomatosis due to a germline LZTR1 mutation.
Munoz DG et al.
Free Neuropathology, 2026
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population.
Deng F et al.
Human Mutation, 2022
35391499 (PubMed )
Supplement: HUMU-43-919-s002.xlsx › Sheet1
Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager.
Gripp KW et al.
Clinical Genetics, 2017
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