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

M. Upadhyaya, S. M. Huson, M. Davies, N. Thomas, N. Chuzhanova, S. Giovannini, D. G. Evans, E. Howard, B. Kerr, S. Griffiths, C. Consoli, L. Side, D. Adams, M. Pierpont, R. Hachen, A. Barnicoat, H. Li, P. Wallace, J. P. Van Biervliet, D. StevensonD. Viskochil, D. Baralle, E. Haan, V. Riccardi, P. Turnpenny, C. Lazaro, L. Messiaen

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