| dc.contributor.author | Bekircan-Kurt, Can Ebru | |
| dc.contributor.author | Simsek-Kiper, Pelin Ozlem | |
| dc.contributor.author | Boduroglu, Koray | |
| dc.contributor.author | Dericioglu, Nese | |
| dc.date.accessioned | 2019-12-10T11:24:19Z | |
| dc.date.available | 2019-12-10T11:24:19Z | |
| dc.date.issued | 2016 | |
| dc.identifier.issn | 0041-4301 | |
| dc.identifier.uri | https://doi.org/10.24953/turkjped.2016.01.015 | |
| dc.identifier.uri | http://hdl.handle.net/11655/15637 | |
| dc.description.abstract | Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c. 12964C>T [p.Gln4322*]) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologists | |
| dc.language.iso | en | |
| dc.publisher | Turkish J Pediatrics | |
| dc.relation.isversionof | 10.24953/turkjped.2016.01.015 | |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.subject | Pediatrics | |
| dc.title | A Novel De Novo Mutation Involving the Mll2 Gene in a Kabuki Syndrome Patient Presenting with Seizures | |
| dc.type | info:eu-repo/semantics/article | |
| dc.type | info:eu-repo/semantics/publishedVersion | |
| dc.relation.journal | Turkish Journal Of Pediatrics | |
| dc.contributor.department | Nöroloji | |
| dc.identifier.volume | 58 | |
| dc.identifier.issue | 1 | |
| dc.identifier.startpage | 97 | |
| dc.identifier.endpage | 100 | |
| dc.description.index | WoS | |
| dc.description.index | Scopus | |
