Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.

doi:10.1055/s-0033-1343350

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Article

Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.

Neuropediatrics - 1 Oct 2013

Ruggieri Martino, Polizzi Agata, Salpietro Vincenzo, Incorpora Gemma, Nicita Francesco, Pavone Piero, Falsaperla Raffaele, Nucifora Caterina, Granata Francesca, Distefano Angela, Padua Luca, Caltabiano Rosario, Lanzafame Salvatore, Gabriele Anna Lia, Ortensi Andrea, D'Orazi Valerio, Panunzi Andrea, Milone Pietro, Mankad Kshitij, Platania Nunzio, Albanese Vincenzo, Pavone Vito

Abstract excerpt

BACKGROUND: Familial spinal neurofibromatosis is a form of neurofibromatosis 1 (NF1), consisting of extensive, symmetrical, histologically proven, multiple neurofibromas of the spinal roots at every level and of all major peripheral nerves sometimes associated with typical NF1 stigmata; most cases underlie NF1 gene mutations. OBJECTIVES: The objectives of this study are (1) to report the findings in a set of...

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PMID: 23780384
DOI: 10.1055/s-0033-1343350

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