Authors: Upadhyaya, M. Huson, S.M. Davies, M. Thomas, N. Chuzhanova, N. Giovannini, S. Evans, D.G. Howard, E. Kerr, B. Griffiths, S. Consoli, C. Side, L. Adams, D. Pierpont, M. Hachen, R. Barnicoat, A. Li, H. Wallace, P. Van Biervliet, J.P. Stevenson, D. Messiaen, L.

Citation: M. Upadhyaya, et al., An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation, American journal of human genetics , 80(1), 2007, pp. 140-151