## Abstract The relationship of genetic factors to variable expressivity in neurofibromatosis 1 (NF1) is poorly understood. We examined familial aggregation of NF1 features among different classes of affected relatives. Clinical information was obtained from the National NF Foundation International
Analysis of neurofibromatosis 1 (NF1) lesions by body segment
β Scribed by Palmer, Chana ;Szudek, Jacek ;Joe, Harry ;Riccardi, Vincent M. ;Friedman, J.M.
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 67 KB
- Volume
- 125A
- Category
- Article
- ISSN
- 0148-7299
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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
Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders in humans with an incidence of 1 in 3500. Most of the NF1 mutations reported so far (over 240 mutations) are unique. Specific prenatal diagnosis can only be provided to familial cases by an indirect linkage analysis or to fam