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http://hdl.handle.net/20.500.12188/11119
Title: | 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 | Authors: | Mirjana Kocova Elena Kochova Elena Sukarova-Angelovska |
Issue Date: | 15-Dec-2015 | Publisher: | BMC Part of Springer Nature | Journal: | BMC Endocrine Disorders | Abstract: | 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 of the NF1 gene is wide and complex; R681X is a rare severe mutation of the NF1 gene known to cause truncation of neurofibromin, with only ten reported cases in the literature so far. | URI: | http://hdl.handle.net/20.500.12188/11119 | DOI: | 10.1186/s12902-015-0076-4 |
Appears in Collections: | Faculty of Medicine: Journal Articles |
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