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New PTEN mutation identified in a patient with rare bilateral choroidal ganglioneuroma

BACKGROUND: Choroidal ganglioneuroma is an extremely rare tumor, and there is little knowledge regarding its pathogenesis. We aimed to investigate the phenotypic and genetic alterations in one sporadic patient with a rare case of bilateral choroidal ganglioneuroma. METHODS: A 6-year-old boy with his...

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Detalles Bibliográficos
Autores principales: Jiang, Zhaoxin, Zhang, Ting, Chen, Chonglin, Sun, Limei, Li, Songshan, Ding, Xiaoyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733288/
https://www.ncbi.nlm.nih.gov/pubmed/33308182
http://dx.doi.org/10.1186/s12886-020-01760-y