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Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): No longer neurofibromatosis type 5 (NF5)

✍ 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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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

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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