@Article{Grajkowska2009,
journal="Folia Neuropathologica",
issn="1641-4640",
volume="47",
number="3",
year="2009",
title="Ganglioglioma associated with alterations of NBN gene. A case report",
abstract="We report a case of a 13-year-old girl with a tumour of the right fronto-parietal region of the brain. The tumour consisted of two components: a well-differentiated astroglial component with Rosenthal fibres and a neoplastic neuronal component. The final histopathology established diagnosis of ganglioglioma WHO grade I. The patient was selected from a group of children with central nervous system (CNS) tumours screened for the most common molecular variants in the NBN gene (exons 5 and 6). Molecular analysis revealed the presence of c.511A>G (p.Ile171Val) substitution on one allele. This is the first patient with ganglioglioma and confirmed mutation in the NBN gene.",
author="Grajkowska, Wieslawa
and Piekutowska-Abramczuk, Dorota
and Ciara, Elzbieta
and Dembowska-Baginska, Bozena
and Perek, Danuta
and Roszkowski, Marcin
and Daszkiewicz, Pawel
and Matyja, Ewa
and Pronicki, Maciej
and Chrzanowska, Krystyna H.",
pages="278--283",
url="https://www.termedia.pl/Ganglioglioma-associated-with-alterations-of-NBN-gene-A-case-report,20,13184,1,1.html"
}