A CASE OF TREACHER COLLINS SYNDROME
| dc.authorid | Gürkan, Hakan/0000-0002-8967-6124 | |
| dc.authorid | Demir, Selma/0000-0002-0964-5513 | |
| dc.authorwosid | Gürkan, Hakan/AAF-2866-2020 | |
| dc.authorwosid | Demir, Selma/A-1500-2018 | |
| dc.contributor.author | Ulusal, S. | |
| dc.contributor.author | Gurkan, H. | |
| dc.contributor.author | Vatansever, U. | |
| dc.contributor.author | Kurkcu, K. | |
| dc.contributor.author | Tozkir, H. | |
| dc.contributor.author | Acunas, B. A. | |
| dc.date.accessioned | 2024-06-12T11:16:04Z | |
| dc.date.available | 2024-06-12T11:16:04Z | |
| dc.date.issued | 2013 | |
| dc.department | Trakya Üniversitesi | en_US |
| dc.description.abstract | Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c. 1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c. 1021_1022delAG mutation. | en_US |
| dc.identifier.doi | 10.2478/bjmg-2013-0036 | |
| dc.identifier.endpage | 80 | en_US |
| dc.identifier.issn | 1311-0160 | |
| dc.identifier.issue | 2 | en_US |
| dc.identifier.pmid | 24778568 | en_US |
| dc.identifier.scopus | 2-s2.0-84903603148 | en_US |
| dc.identifier.scopusquality | Q4 | en_US |
| dc.identifier.startpage | 77 | en_US |
| dc.identifier.uri | https://doi.org/10.2478/bjmg-2013-0036 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14551/24180 | |
| dc.identifier.volume | 16 | en_US |
| dc.identifier.wos | WOS:000332942700012 | en_US |
| dc.identifier.wosquality | Q4 | en_US |
| dc.indekslendigikaynak | Web of Science | en_US |
| dc.indekslendigikaynak | Scopus | en_US |
| dc.indekslendigikaynak | PubMed | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | Macedonian Acad Sciences Arts | en_US |
| dc.relation.ispartof | Balkan Journal Of Medical Genetics | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.subject | TCOF1 Gene | en_US |
| dc.subject | Treacher Collins Syndrome (TCS) | en_US |
| dc.subject | Mandibulofacial Dysostosis | en_US |
| dc.subject | De Novo Mutation | en_US |
| dc.subject | Dysostosis | en_US |
| dc.subject | Gene | en_US |
| dc.title | A CASE OF TREACHER COLLINS SYNDROME | en_US |
| dc.type | Article | en_US |
