dc.contributor.author | Akkuş, Nejmiye | |
dc.contributor.author | Kılıç, Betül | |
dc.contributor.author | Özyavuz Çubuk, Pelin | |
dc.date.accessioned | 2020-10-26T13:34:13Z | |
dc.date.available | 2020-10-26T13:34:13Z | |
dc.date.issued | 2020 | en_US |
dc.identifier.citation | Akkuş, N., Kılıç, B. ve Özyavuz Çubuk, P. (2020). Smith-magenis syndrome: Clues in the clinic. Journal of Pediatric Genetics, 9(4), 279-284. https://dx.doi.org/10.1055/s-0039-1700965 | en_US |
dc.identifier.issn | 2146-4596 | |
dc.identifier.issn | 2146-460X | |
dc.identifier.uri | https://dx.doi.org/10.1055/s-0039-1700965 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12511/5975 | |
dc.description.abstract | As a multisystemic congenital mental retardation disorder/anomaly, Smith-Magenis syndrome (SMS) is commonly aroused from de novo interstitial deletion of the 17p11.2 chromosome. The deletion of this chromosome results with haploinsufficiency for the retinoic acid-induced 1 (RAI1) gene. In this article, we present three cases, who were diagnosed with SMS with mental retardation and behavioral problems such as self-hugging and sleeping disturbances. During the evaluation of the patients, it has been found that there was a 3.4-Mb deletion in the 17p11.2 chromosome region of these patients. This deletion includesRAI1that is a critically involved gene in SMS. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Georg Thieme Verlag KG | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Smith-Magenis Syndrome | en_US |
dc.subject | Chromosome 17p11 | en_US |
dc.subject | 2 Deletion | en_US |
dc.subject | Sleep Disturbance | en_US |
dc.title | Smith-magenis syndrome: Clues in the clinic | en_US |
dc.type | article | en_US |
dc.relation.ispartof | Journal of Pediatric Genetics | en_US |
dc.department | İstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı | en_US |
dc.identifier.volume | 9 | en_US |
dc.identifier.issue | 4 | en_US |
dc.identifier.startpage | 279 | en_US |
dc.identifier.endpage | 284 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.identifier.doi | 10.1055/s-0039-1700965 | en_US |