[Neurofibromatosis type 1 --Recklinghausen's disease; pathogenesis and clinical symptoms].
Neurofibromatosis type 1 (NF1) or von Recklinghausen neurofibromatosis is a common autosomal dominant disorder affecting 1 in 3000 individuals. The gene for NF1 is localized on chromosome 17q11.2. The gene mutations or the inactivation its protein product--neurofibromin are responsible for the manifestation of the disease. NF1 demonstrates a wide variability of clinical symptoms classified by NIH Consensus Conference in 1987.
Zakład Genetyki Medycznej Akademii Medycznej w Lublinie.
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A
Stenzel
M
M
Kostuch
J
J
Wojcierowski
D002886:Chromosomes, Human, Pair 17; D006801:Humans; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics*; D025542:Neurofibromin 1
D009419:Nerve Tissue Proteins; D025542:Neurofibromin 1