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An histologically atypical NF-type 1 patient with a new pathogenic mutation

✍ Scribed by Giovanni Bianco, Giuseppe Greco, Manila Antonelli, Stefania Casali, Cinzia Castagnini

Book ID
118791578
Publisher
Springer Milan
Year
2012
Tongue
English
Weight
296 KB
Volume
33
Category
Article
ISSN
1590-1874

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We report a 21-year-old male with symptomatic optic glioma who does not fulfill the diagnosis of neurofibromatosis 1 (NF1) according to standard NIH criteria. Analysis of the NF1 gene revealed a recurrent mutation in exon 37 (C6792A or Y2264X). This nonsense mutation causes skipping of exon 37 durin