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6. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1. Uludağ Alkaya D; Lissewski C; Yeşil G; Zenker M; Tüysüz B Am J Med Genet A; 2021 Dec; 185(12):3623-3633. PubMed ID: 34184824 [TBL] [Abstract][Full Text] [Related]
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12. 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 J Med Genet; 2015 Jun; 52(6):413-21. PubMed ID: 25795793 [TBL] [Abstract][Full Text] [Related]
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18. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Johnston JJ; van der Smagt JJ; Rosenfeld JA; Pagnamenta AT; Alswaid A; Baker EH; Blair E; Borck G; Brinkmann J; Craigen W; Dung VC; Emrick L; Everman DB; van Gassen KL; Gulsuner S; Harr MH; Jain M; Kuechler A; Leppig KA; McDonald-McGinn DM; Can NTB; Peleg A; Roeder ER; Rogers RC; Sagi-Dain L; Sapp JC; Schäffer AA; Schanze D; Stewart H; Taylor JC; Verbeek NE; Walkiewicz MA; Zackai EH; Zweier C; ; Zenker M; Lee B; Biesecker LG Genet Med; 2018 Oct; 20(10):1175-1185. PubMed ID: 29469822 [TBL] [Abstract][Full Text] [Related]
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