Associated Papers
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.
Uliana V et al.
Genes, 2024
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Motta M et al.
Human Molecular Genetics, 2019
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
LZTR1: Genotype Expansion in Noonan Syndrome.
Güemes M et al.
Hormone Research in Paediatrics, 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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