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.

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Published in Am J Hum Genet on December 08, 2006


M Upadhyaya1, 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 Stevenson, D Viskochil, D Baralle, E Haan, V Riccardi, P Turnpenny, C Lazaro, L Messiaen

Author Affiliations

1: Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK.

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