Associated Papers
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
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.
Uliana V et al.
Genes, 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
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Umeki I et al.
Human Genetics, 2019
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.
Kehrer-Sawatzki H et al.
Human Genetics, 2017
27921248 (PubMed )
Supplement: 439_2016_1753_MOESM1_ESM.doc
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL et al.
Journal of Medical Genetics, 2015
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Smith MJ et al.
Neurology, 2015
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