A Rare Case of Familial Schwannomatosis Showing Intrafamilial Variability with Identification of a Shared Novel Germline SMARCB1 Mutation

Schwannomatosis is characterized by the presence of multiple schwannomas without landmarks of NF2. It is considered the rarest form of neurofibromatosis (NF). Here, we report the first case of familial schwannomatosis with regard to the segmental/generalized phenotype, in which the proband and the d...

Descripción completa

Detalles Bibliográficos
Autores principales: Lee, Jun Hyun, Jeong, Jae Seok, Chae, Kum Ju, Han, Yeon-Hee, Kim, So Ri, Lee, Yong Chul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9696231/
https://www.ncbi.nlm.nih.gov/pubmed/36363549
http://dx.doi.org/10.3390/medicina58111592

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9696231/
https://www.ncbi.nlm.nih.gov/pubmed/36363549
http://dx.doi.org/10.3390/medicina58111592

Ejemplares similares