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 - 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.; et al. (American journal of human genetics, 2007)
Keywords: Adolescent; Adult; Biological and medical sciences; Child; Exons; Female; Fundamental and applied biological sciences. Psychology; Gene expression; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Genotype; Genotype & phenotype; Humans; Male; Medical genetics; Medical sciences; Middle Aged; Molecular and cellular biology; Mutation; Neurofibroma - genetics; Neurofibromatosis 1 - genetics; Neurofibromin 1 - genetics; Neurology; Pedigree; Phenotype; Sequence Analysis, DNA; Sequence Deletion; Skin Neoplasms - genetics; Studies; Tumors of the nervous system. Phacomatoses; Chromosomal aberration; Human; Skin disease; Nervous system diseases; Correlation; Typing; Phacomatosis; Genotype; Neurofibromatosis Recklinghausen; Genetic disease; Phenotype; Association; Exon; Gene; Central nervous system disease; Deletion; Genetics; Benign neoplasm; Neurofibroma