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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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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


DOI: 10.1016/j.genrep.2020.100697


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