| 1 | LZTR1, NS10, NS9, SOS2
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| Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
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| Capri Y, Flex E, Krumbach OHF, Carpentieri G, Cecchetti S, Lißewski C, Rezaei Adariani S, Schanze D, Brinkmann J, Piard J, Pantaleoni F, Lepri FR, Goh ES, Chong K, Stieglitz E, Meyer J, Kuechler A, Bramswig NC, Sacharow S, Strullu M, Vial Y, Vignal C, Kensah G, Cuturilo G, Kazemein Jasemi NS, Dvorsky R, Monaghan KG, Vincent LM, Cavé H, Verloes A, Ahmadian MR, Tartaglia M, Zenker M.
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| Am J Hum Genet 104(6):1223-1232. doi: 10.1016/j.ajhg.2019.04.013. Epub 2019 May 23.
2019
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| 2 | LZTR1, NS10
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| Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexe
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| Umeki I, Niihori T, Abe T, Kanno SI, Okamoto N, Mizuno S, Kurosawa K, Nagasaki K, Yoshida M, Ohashi H, Inoue SI, Matsubara Y, Fujiwara I, Kure S, Aoki Y.
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| Hum Genet. Jan;138(1):21-35. doi: 10.1007/s00439-018-1951-7. Epub 2018 Oct 27 2019
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| 3 | LZTR1, NS10
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| Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
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| Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, Borck G, Salviati L, Zenker M, Cirstea IC, Tartaglia M.
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| Hum Mol Genet. Mar 15;28(6):1007-1022. doi: 10.1093/hmg/ddy412 2019
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| 4 | LZTR1, NS10
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| LZTR1: Genotype Expansion in Noonan Syndrome.
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| Güemes M, Martín-Rivada Á, Ortiz-Cabrera NV, Martos-Moreno GÁ, Pozo-Román J, Argente J.
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| Genet Med. Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22 2018
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| 5 | LZTR1, NS10
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| Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
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| 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; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG.
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| Genet Med. Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22 2018
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