Article
Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.
Einstein (Sao Paulo, Brazil) - 1 Jan 2026
Angeloni Luise Longo, Jorente Josep, Oliveira Sobrinho Ruy Pires de, Gil-da-Silva-Lopes Vera Lúcia, Vidoti-Nascimento Carolina Gama, Guaragna Mara Sanches, Vieira Tarsis Paiva, Steiner Carlos Eduardo, Teixeira Anne Caroline Barbosa, Coelho Antonio Victor Campos, Quaio Caio Robledo D' Angioli Costa, Moreno Carolina Araujo, Perrone Eduardo, Nascimento Junior Jose Bandeira do, Espolaor Jessica Grasiela Araujo, Prota Joana Rosa Marques, Oliveira Filho Joao Bosco de, Ceroni Jose Ricardo Magliocco, Chen Kelin, Ferreira Letícia Torres, Santana Lucas Santos de, Mofatto Luciana Souto, Virmond Luiza do Amaral, Silva Marina de Franca Basto, Migliavacca Michele Patricia, Minillo Renata Moldenhauer, Yamada Renata Yoshiko, Sitnik Roberta, Almeida Tatiana Ferreira de, Silva Thiago Yoshinaga Tonholo, Cintra Vivian Pedigone
Abstract excerpt
OBJECTIVE: To describe clinical and molecular aspects of a cohort of Brazilian individuals with neurofibromatosis type 1, a neurocutaneous disorder associated with a predisposition to tumors and inter- and intrafamilial variable expressivity. METHODS: We conducted a retrospective study of 50 patients from 30 unrelated families, with features of Neurofibromatosis type 1, who underwent clinical evaluation and whole...
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