Clinical and epidemiological characterisation of neurofibromatosis type 1: Combined analysis of a reference hospital in Brazil and DataSUS

Clinical and epidemiological characterisation of neurofibromatosis type 1: Combined analysis of a reference hospital in Brazil and DataSUS

Abstract Neurofibromatosis type 1 (NF1) is a syndrome triggered by mutations in the NF1 gene, which alter the neurofibromin protein, a negative regulator of the RAS oncogenic pathway. Due to underreporting, the scarcity of studies on NF1 in Brazil and its importance in public health. This study aime...

Full description

Saved in:
Bibliographic Details
Main Authors: Marina Gabriela da Silva Lins, Peterson de Jesus Morais, Júlia de Oliveira Martinho, Mariah Cristina Antunes do Nascimento, Ana Paula Simedan Vila, Márcia Maria Urbanin Castanhole-Nunes, Érika Cristina Pavarino, Eny Maria Goloni-Bertollo
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2025-04-01
Series:Genetics and Molecular Biology
Subjects:
Neurofibromatosis
neurofibroma
neoplasms
nervous system diseases
genetic diseases
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572025000100105&lng=en&tlng=en
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572025000100105&lng=en&tlng=en

Similar Items