Article
Natural history of neurofibromatosis type 2 with onset before the age of 1 year.
Neurogenetics - 1 May 2013
Ruggieri Martino, Gabriele Anna Lia, Polizzi Agata, Salpietro Vincenzo, Nicita Francesco, Pavone Piero, Platania Nunzio, Milone Pietro, Distefano Angela, Privitera Giuseppe, Belfiore Giuseppe, Granata Francesca, Caltabiano Rosario, Albanese Vincenzo, Pavone Lorenzo, Quattrone Aldo
Abstract excerpt
Neurofibromatosis type 2 (NF2) with onset before the first year of life has been anecdotally reported in the literature. We (a) prospectively (years 1997-2012) followed up three unrelated NF2 children, all harbouring NF2 gene mutations whose onset of disease was before age 1 year, and (b) systematically reviewed published reports on NF2 in the youngest age group (i.e. onset <1 year). The present three children...
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