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References

1. Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R,Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A,Legius E. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis1-like phenotype. Nat Genet. 2007 Sep;39(9):1120-6.
2. Denayer E, Chmara M, Brems H, Kievit AM, van Bever Y, Van den Ouweland AM, VanMinkelen R, de Goede-Bolder A, Oostenbrink R, Lakeman P, Beert E, Ishizaki T,Mori T, Keymolen K, Van den Ende J, Mangold E, Peltonen S, Brice G, Rankin J, VanSpaendonck-Zwarts KY, Yoshimura A, Legius E. Legius syndrome in fourteenfamilies. Hum Mutat. 2011 Jan;32(1):E1985-98. doi: 10.1002/humu.21404.
3. Legius E, Stevenson D. Legius Syndrome. 2010 Oct 14 [updated 2020 Aug 6]. 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/NBK47312/
4. Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, SpencerE, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D,Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C,McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D,Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F,Yoshimura A, Parret A, Korf B, Legius E. Clinical and mutational spectrum ofneurofibromatosis type 1-like syndrome. JAMA. 2009 Nov 18;302(19):2111-8. doi:10.1001/jama.2009.1663. Erratum in: JAMA. 2010 Jun 23;303(24):2477.
5. Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P,Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B,Vidaud M, Wolkenstein P, Vidaud D, France RN. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet. 2009Jul;46(7):425-30. doi: 10.1136/jmg.2008.065243.
6. Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M. SPRED1 mutations (Legius syndrome): anotherclinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.J Med Genet. 2009 Jul;46(7):431-7. doi: 10.1136/jmg.2008.065474.