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

Neurofibromatosis type 1 (NF1) is characterized by café-au-lait spots, skinfold freckling, and cutaneous neurofibromas. No obvious relationships between small mutations (

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Veröffentlicht in:	American journal of human genetics 2007-01, Vol.80 (1), p.140-151
Hauptverfasser:	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., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C., Messiaen, L.
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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Zusammenfassung:	Neurofibromatosis type 1 (NF1) is characterized by café-au-lait spots, skinfold freckling, and cutaneous neurofibromas. No obvious relationships between small mutations (
ISSN:	0002-9297 1537-6605
DOI:	10.1086/510781