[Neurofibromatosis type 1 - description of clinical features and molecular mechanism of the disease].

Abstract excerpt

Neurofibromatosis type 1 (NF1) called also von Recklinghausen's disease is an autosomal dominant genetic disorder with a  complex clinical course. Clinical signs and symptoms concern mainly skin (with pigmentation abnormalities- café au lait macules, axillary/groin freckling and neurofibromas) and central nervous system (cognitive impairment, epilepsy, attention deficit hyperactivity disorder and gliomas)....

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