Natural history of neurofibromatosis type 2 with onset before the age of 1 year

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) systematic...

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Veröffentlicht in:	Neurogenetics 2013-05, Vol.14 (2), p.89-98
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Age of Onset Biomedical and Life Sciences Biomedicine Brain Neoplasms - diagnosis Brain Neoplasms - genetics Brain Neoplasms - pathology Child Children & youth Disease Progression Female Genes, Neurofibromatosis 2 - physiology Human Genetics Humans Infant Magnetic Resonance Imaging - methods Male Molecular Medicine Mutation - genetics Neurofibromatosis 2 - diagnosis Neurofibromatosis 2 - genetics Neurofibromatosis 2 - pathology Neurosciences NMR Nuclear magnetic resonance Original Article Prospective Studies Retina Systematic review
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Zusammenfassung:	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
ISSN:	1364-6745 1364-6753
DOI:	10.1007/s10048-013-0354-0