Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.

Núria Catasús,Belen Garcia,Iván Galván-Femenía,Adrià Plana,Alejandro Negro,Inma Rosas,Andrea Ros,Emilio Amilibia,Juan Luis Becerra,Cristina Hostalot,Francesc Rocaribas,Isabel Bielsa, Conxi Lazaro Garcia,Rafael de Cid,Eduard Serra,Ignacio Blanco,Elisabeth Castellanos

Journal of medical genetics（2022）

Cited 6|Views27

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Abstract

We validated the UK NF2 GSS in a Spanish NF2 cohort, despite the significant phenotypic variability identified within it. The revision of the GSS, named Functional Genetic Severity Score, could add value for the classification of mosaic patients and patients showing mild and moderate phenotypes once it has been validated in other cohorts.

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Key words

Genetic Association Studies,congenital,genetic predisposition to disease,genetics,hereditary,neonatal diseases and abnormalities

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