Noonan syndrome:
Pagnamenta AT et al. Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. Clinical Genetics. 2019;95:693–703. PMID: 30859559.
Tartaglia M et al. Noonan syndrome: clinical aspects and molecular pathogenesis. Mol Syndromol 2010;1:2–26. PMID: 20648242
Yamamoto GL et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet 2015;52:413–421. doi:10.1136/jmedgenet-2015-103018. PMID: 25795793.
Schwannomatosis:
Evans DG et al. Schwannomatosis: a genetic and epidemiological study. J Neurol Neurosurg Psychiatry. 2018;89:1215–1219. PMID: 29909380.
Piotrowski A et al. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet. 2014 Feb;46(2):182-7. PMID: 24362817.
Plotkin SR et al. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. Genet Med. 2022 Sep;24(9):1967-1977. PMID: 35674741.