A Novel c.6766_6767insAA Mutation in the Neurofibromin Gene in a Patient with Neurofibromatosis Type 1-Associated Glioblastoma / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 175-179, 2018.
Artículo
en Inglés
| WPRIM
| ID: wpr-728844
ABSTRACT
Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome caused by mutations in the neurofibromin gene. NF-1 patients have a high risk of tumors, and optic glioma is the most commonly observed central nervous system tumor in these patients. However, glioblastoma is extremely rare in pediatric NF-1 patients. Here we report the discovery of a novel heterozygous c.6766_6767insAA (p.Ser2256Lysfs*4), pathogenic mutation in the neurofibromin gene in a 17-year-old boy with NF-1-associated glioblastoma.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Sistema Nervioso Central
/
Neurofibromatosis 1
/
Neurofibromatosis
/
Glioblastoma
/
Glioma del Nervio Óptico
/
Síndromes Neurocutáneos
/
Neurofibromina 1
Límite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Journal of the Korean Child Neurology Society
Año:
2018
Tipo del documento:
Artículo
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