Treatment for plexiform neurofibromas in patients with NF1
β Scribed by Simone L Ardern-Holmes; Kathryn N North
- Book ID
- 119609062
- Publisher
- The Lancet
- Year
- 2012
- Tongue
- English
- Weight
- 139 KB
- Volume
- 13
- Category
- Article
- ISSN
- 1470-2045
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Neurofibromatosis 1 (NF1) is an autosomal dominant disorder caused by genetic alterations of the NF1 gene on 17q11.2. About 30% of NF1 patients develop plexiform neurofibromas (PNFs), which often cause severe clinical deficits. To determine whether there is a certain genotype underlying PNFs or subt
Neurofibromatosis type 1 (NF1), a common autosomal dominant neurogenetic disorder affecting 1 in 4000 individuals worldwide, results from functional inactivation of the 17q11.2-located NF1 gene. Plexiform neurofibroma (PNF) is a congenital benign tumour present in 30-50% of NF1 patients, which in ab