Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): No longer neurofibromatosis type 5 (NF5)
β Scribed by Ruggieri, Martino
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 36 KB
- Volume
- 101
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
Neurofibromatosis type 1 (NF1), a genetic disorder with neuroectodermal involvement, demonstrates phenotypic overlap in some patients with Noonan syndrome (NS), ultimately resulting in the so-called neurofibromatosis-Noonan syndrome (NF-NS). A strong association of the two phenotypic traits was rece
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