Please use this identifier to cite or link to this item:
http://hdl.handle.net/20.500.12188/11119
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Mirjana Kocova | en_US |
dc.contributor.author | Elena Kochova | en_US |
dc.contributor.author | Elena Sukarova-Angelovska | en_US |
dc.date.accessioned | 2021-03-22T10:21:01Z | - |
dc.date.available | 2021-03-22T10:21:01Z | - |
dc.date.issued | 2015-12-15 | - |
dc.identifier.uri | http://hdl.handle.net/20.500.12188/11119 | - |
dc.description.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. | en_US |
dc.language.iso | en | en_US |
dc.publisher | BMC Part of Springer Nature | en_US |
dc.relation.ispartof | BMC Endocrine Disorders | en_US |
dc.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 | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1186/s12902-015-0076-4 | - |
dc.identifier.url | http://link.springer.com/content/pdf/10.1186/s12902-015-0076-4 | - |
dc.identifier.volume | 15 | - |
dc.identifier.issue | 1 | - |
item.grantfulltext | none | - |
item.fulltext | No Fulltext | - |
crisitem.author.dept | Faculty of Medicine | - |
crisitem.author.dept | Faculty of Medicine | - |
Appears in Collections: | Faculty of Medicine: Journal Articles |
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