Lookup NU author(s): Dr Eugen-Matthias Strehle,
Dr Sarah Hill
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NF1 is one of the commonest monogenic disorders and belongs to the genodermatoses. Neurofibromas and optic gliomas can occur during childhood and adulthood. This study compared long term management of NF1 patients with agreed guidelines. Clinical assessment of pubertal development and ocular apparatus was suboptimal. Mutation testing of the NF1 gene was performed in 22% of patients (positive in 12%).
Author(s): Strehle EM, Hill SR
Publication type: Article
Publication status: Published
Journal: Gene Reports
Online publication date: 30/04/2020
Acceptance date: 27/04/2020
ISSN (electronic): 2452-0144
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