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Neurol Sci. 2012 Dec;33(6):1483-5. doi: 10.1007/s10072-011-0897-5. Epub 2012 Jan 6.

An histologically atypical NF-type 1 patient with a new pathogenic mutation.

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  • 1Dipartimento di Neuroscienze, Sezione Neurologia e Neurofisiologia Clinica, Azienda Ospedaliera-Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 53100, Siena, Ital. gatsby@hotmail.it

Abstract

Here we describe a case of Neurofibromatosis type 1 (NF1) associated with an atypical histiocytic lesion and a new pathogenic mutation. The genetic analysis revealed an heterozygous mutation in the 5' splice site of intron 32, 6,084+1G → T. Histopathological findings are compatible with juvenile xanthogranuloma. The new, not already described, splicing mutation, is possibly partly responsible of the association between NF1 and the histiocitic lesion.

PMID:
22222937
DOI:
10.1007/s10072-011-0897-5
[PubMed - indexed for MEDLINE]
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