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The Newcastle University research output collection, currently available on ePrints, will shortly be moving to a new open repository platform, Figshare. To prepare for the data migration we have paused adding new content to ePrints, and will resume once the new repository is launched. During this time you will continue to have access to ePrints (but no new content will appear). We will share updates here when available.

Physicians' adherence to published guidelines regarding the outpatient care of pediatric patients with neurofibromatosis type 1

Lookup NU author(s): Dr Eugen-Matthias Strehle, Dr Sarah HillORCiD

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Abstract

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%).

Publication metadata

Author(s): Strehle EM, Hill SR

Publication type: Article

Publication status: Published

Journal: Gene Reports

Year: 2020

Volume: 20

Online publication date: 30/04/2020

Acceptance date: 27/04/2020

ISSN (electronic): 2452-0144

Publisher: Elsevier

URL: https://doi.org/10.1016/j.genrep.2020.100697

DOI: 10.1016/j.genrep.2020.100697

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