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References

1. Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, KerrB, Nystrom AM, Sol-Church K, Verloes A, Zenker M. Cardio-facio-cutaneoussyndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet. 2011May 15;157C(2):129-35. doi: 10.1002/ajmg.c.30295.
2. Armour CM, Allanson JE. Further delineation of cardio-facio-cutaneoussyndrome: clinical features of 38 individuals with proven mutations. J Med Genet.2008 Apr;45(4):249-54.
3. Gripp KW, Lin AE, Nicholson L, Allen W, Cramer A, Jones KL, Kutz W, Peck D,Rebolledo MA, Wheeler PG, Wilson W, Al-Rahawan MM, Stabley DL, Sol-Church K.Further delineation of the phenotype resulting from BRAF or MEK1 germlinemutations helps differentiate cardio-facio-cutaneous syndrome from Costellosyndrome. Am J Med Genet A. 2007 Jul 1;143A(13):1472-80.
4. Narumi Y, Aoki Y, Niihori T, Neri G, Cavé 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. Molecular and clinical characterization ofcardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations withCostello syndrome. Am J Med Genet A. 2007 Apr 15;143A(8):799-807.
5. Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, MatsubaraY, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S,Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H.Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPKsignalling pathway: genotype-phenotype relationships and overlap with Costellosyndrome. J Med Genet. 2007 Dec;44(12):763-71.
6. Rauen KA, Tidyman WE, Estep AL, Sampath S, Peltier HM, Bale SJ, Lacassie Y.Molecular and functional analysis of a novel MEK2 mutation incardio-facio-cutaneous syndrome: transmission through four generations. Am J Med Genet A. 2010 Apr;152A(4):807-14. doi: 10.1002/ajmg.a.33342.
7. Rauen KA. Cardiofaciocutaneous Syndrome. 2007 Jan 18 [updated 2016 Mar 3]. In:Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1186/
8. Rauen KA. Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAFmutations in patients with a Costello phenotype. Am J Med Genet A. 2006 Aug1;140(15):1681-3.
9. Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T,Neri G. The cardiofaciocutaneous syndrome. J Med Genet. 2006 Nov;43(11):833-42.
10. Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-KaesbachG, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke 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. Mutation andphenotypic spectrum in patients with cardio-facio-cutaneous and Costellosyndrome. Clin Genet. 2008 Jan;73(1):62-70.
11. Yoon G, Rosenberg J, Blaser S, Rauen KA. Neurological complications ofcardio-facio-cutaneous syndrome. Dev Med Child Neurol. 2007 Dec;49(12):894-9.
12. Zenker M. Clinical manifestations of mutations in RAS and relatedintracellular signal transduction factors. Curr Opin Pediatr. 2011Aug;23(4):443-51. doi: 10.1097/MOP.0b013e32834881dd. Review.