Article
A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.
Neuro-oncology - 1 Jan 2014
Zemmoura Ilyess, Vourc'h Patrick, Paubel Agathe, Parfait Béatrice, Cohen Joëlle, Bilan Frédéric, Kitzis Alain, Rousselot Cécilia, Parker Fabrice, François Patrick, Andres Christian R
Abstract excerpt
BACKGROUND: Intramedullary ependymomas are rare and benign tumors in the adult. Little is known about their physiopathology, but the implication of the NF2 gene is suspected because of their presence in a third of patients with type 2 neurofibromatosis (NF2), a disorder caused by mutation of the NF2 gene. METHODS: We conducted a clinical and genetic study of a family in which 5 of 9 members suffered from...
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