NF1 mutations in neurofibromatosis 1 pat
✍
Lan Kluwe; Reinhard E. Friedrich; Bruce Korf; Raimund Fahsold; Victor-F. Mautner
📂
Article
📅
2002
🏛
John Wiley and Sons
🌐
English
⚖ 198 KB
👁 1 views
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