Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?
โ Scribed by S Alwan; SJ Tredwell; JM Friedman
- Book ID
- 110888015
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 1002 KB
- Volume
- 67
- Category
- Article
- ISSN
- 0009-9163
No coin nor oath required. For personal study only.
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## Abstract **BACKGROUND**: The disorder neurofibromatosis type 1 (NF1) is caused by mutations in the __NF1__ gene, which influences the availability of activated Ras and the latter's control of cellular proliferation. Emphasis on this aspect of __NF1__ has focused attention on the tumor suppressio
Mosaicism is an important feature of type-1 neurofibromatosis (NF1) on account of its impact upon both clinical manifestations and transmission risk. Using FISH and MLPA to screen 3500 NF1 patients, we identified 146 individuals harboring gross NF1 deletions, 14 of whom (9.6%) displayed somatic mosa