| 1 | CFC4, MAP2K2
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| Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation.
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| Linden HC, Price SM.
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| Clin Dysmorphol 20(2):86-8. doi: 10.1097/MCD.0b013e32833ff29d. No abstract available.
2011
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| 2 | CFC4, MAP2K2
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| Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.
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| Rauen KA, Tidyman WE, Estep AL, Sampath S, Peltier HM, Bale SJ, Lacassie Y.
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| Am J Med Genet A 152A(4):807-14.PMID: 20358587 2010
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| 3 | CFC, CFC3, CFC4, MAP2K1, MAP2K2
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| Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
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| Dentici ML, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, Cordeddu V, Martinelli S, Briuglia S, Digilio MC, Zampino G, Tartaglia M, Dallapiccola B.
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| Eur J Hum Genet 17(6):733-40. Epub 2009 Jan 21. 2009
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| 4 | HRAS, KRAS, BRAF, CFC2, COSTS, CFC3, MAP2K1, MAP2K2, CFC4, CFC5
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| Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
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| Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, HŸbner CA, Korenke GC, Kšnig R, Kress W, KrŸger G, Meinecke P, MŸcke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M.
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| Clin Genet 73(1):62-70. Epub 2007 Nov 27. 2008
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| 5 | MAP2K1, MAP2K2, BRAF, CFC3, CFC4, CFC2
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| Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.
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| Senawong T, Phuchareon J, Ohara O, McCormick F, Rauen KA, Tetsu O.
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| Hum Mol Genet 17(3):419-30. Epub 2007 Nov 2. 2008
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| 6 | CFC2, CFC3, CFC4, CFC5
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| Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations.
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| Armour CM, Allanson JE.
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| J Med Genet 45(4):249-54. Epub 2007 Nov 26. 2008
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| 7 | BRAF, CFC2, CFC3, CFC4, CFC5, COSTS, HRAS, KRAS, MAP2K1, MAP2K2, NS3
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| The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
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| Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.
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| Hum Mutat 29(8):992-1006.
2008
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| 8 | CFC3, CFC4, CFC5, KRAS, MAP2K1, MAP2K2, NS3, NS5, RAF1
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| Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
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| Nyström AM, Ekvall S, Berglund E, Björkqvist M, Braathen G, Duchen K, Enell H, Holmberg E, Holmlund U, Olsson-Engman M, Annerén G, Bondeson ML.
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| J Med Genet 45(8):500-6. Epub 2008 May 2.
2008
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| 9 | CFC2, CFC3, CFC4, CFC5, KRAS, MAP2K1, MAP2K2, BRAF, COSTS, HRAS
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| Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
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| Narumi Y, Aoki Y, Niihori T, Neri G, Cave H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y.
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| Am J Med Genet A 143(8):799-807. 2007
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| 10 | CFC2, BRAF, RAF1, MAP2K1, MAP2K2, CFC3, CFC4
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| Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
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| Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA.
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| Science 311(5765):1287-90. Epub 2006 Jan 26. 2006
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| 11 | CFC2, BRAF, CFC3, MAP2K1, CFC4, MAP2K2, COSTS, HRAS
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| Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.
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| Rauen KA.
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| Am J Med Genet A 140(15):1681-3. No abstract available. 2006
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| 12 | CFC2, CFC3, CFC4
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| The cardiofaciocutaneous syndrome.
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| Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G.
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| J Med Genet 43(11):833-42. Epub 2006 Jul 6. 2006
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