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Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Among authors: abramowicz a. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793
Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma-Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances.
Braun-Walicka N, Pluta A, Wolak T, Maj E, Maryniak A, Gos M, Abramowicz A, Landowska A, Obersztyn E, Bal J. Braun-Walicka N, et al. Among authors: abramowicz a. Genes (Basel). 2023 Dec 3;14(12):2173. doi: 10.3390/genes14122173. Genes (Basel). 2023. PMID: 38136995 Free PMC article.