Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature

BACKGROUND: Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder with an extremely variable phenotype. In childhood NF1 can be associated with optic glioma and central precocious puberty; the latter is more common when the optic chiasm is affected. The mutational spectrum o...

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Detalles Bibliográficos
Autores principales: Kocova, Mirjana, Kochova, Elena, Sukarova-Angelovska, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678666/
https://www.ncbi.nlm.nih.gov/pubmed/26666878
http://dx.doi.org/10.1186/s12902-015-0076-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678666/
https://www.ncbi.nlm.nih.gov/pubmed/26666878
http://dx.doi.org/10.1186/s12902-015-0076-4

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