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Article

Clinical and molecular characterization of neurofibromatosis in southern Brazil.

Expert review of molecular diagnostics - 1 Jun 2018

Rosset Clévia, Vairo Filippo, Cristina Bandeira Isabel, Fonini Maievi, Netto Cristina Brinckmann Oliveira, Ashton-Prolla Patricia

Abstract excerpt

OBJECTIVES: Neurofibromatoses (type 1: NF1; type 2: NF2) are autosomal dominant tumor predisposition syndromes mostly caused by loss-of-function mutations in the tumor suppressor genes NF1 and NF2, respectively. Genotyping is important for correct diagnosis of these diseases. The authors aimed to characterize NF1 and NF2 variants in patients from Southern Brazil. METHODS: Ninety-three unrelated probands with NF1...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29685074
DOI: 10.1080/14737159.2018.1468256

Genes

SMARCB1
SUZ12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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