Article
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.
Journal of medical genetics - 1 Jul 2022
Catasús Núria, Garcia Belen, Galván-Femenía Iván, Plana Adrià, Negro Alejandro, Rosas Inma, Ros Andrea, Amilibia Emilio, Becerra Juan Luis, Hostalot Cristina, Rocaribas Francesc, Bielsa Isabel, Lazaro Garcia Conxi, de Cid Rafael, Serra Eduard, Blanco Ignacio, Castellanos Elisabeth
Abstract excerpt
BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by the development of multiple schwannomas, especially on vestibular nerves, and meningiomas. The UK NF2 Genetic Severity Score (GSS) is useful to predict the progression of the disease from germline NF2 pathogenic variants, which allows the clinical follow-up and the genetic counselling offered to affected families to be...
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