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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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Dades bibliogràfiques
Publicat a:BMC Endocr Disord
Autors principals: Kocova, Mirjana, Kochova, Elena, Sukarova-Angelovska, Elena
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4678666/
https://ncbi.nlm.nih.gov/pubmed/26666878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12902-015-0076-4
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