Abstract:Introduction. Neurofibromatosis type 1 (NF1), caused by mutation of the tumour-suppressor gene encoding neurofibromin, is an autosomal dominant disorder affecting various organs.
Aim. The aim of the study was to discuss the clinical symptoms of NF1 based on seven cases of the disease with regard to the literature.
Material and methods. We analyzed retrospectively patients with NF1 (4 females and 3 males) aged 19-52 who were treated at Endocrinology Department between 2003 and 2017. The diagnosis was made in ch… Show more
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