Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

Abstract

Segmental neurofibromatosis (NF) is generally thought to result from a postzygotic NF1 (neurofibromatosis type 1) gene mutation. However, this has not yet been demonstrated at the molecular level. Using fluorescence in situ hybridisation (FISH) we identified an NF1 microdeletion in a patient with segmental NF in whom café-au-lait spots and freckles are… (More)
DOI: 10.1038/sj.ejhg.5200493

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Cite this paper

@article{Tinschert2000SegmentalNI, title={Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene}, author={Sigrid Tinschert and Ilka Charlotte Naumann and Elisabeth Stegmann and Annegret Buske and Dieter Eckhard Kaufmann and Gundula Thiel and Dieter E. Jenne}, journal={European Journal of Human Genetics}, year={2000}, volume={8}, pages={455-459} }