Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.

Abstract excerpt

Neurofibromatosis type I (NF1) is a disease associated with the presence of benign neurofibromas and malignant tumours of the central and peripheral nervous system, that are accompanied by characteristic changes in the skin, such as café-au-lait spots or axillary freckling. In 50% of NF1 patients, the clinical symptoms become apparent below 1st year and in 97%, before the age of 8 years. The disease is mainly...

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