ARTERIAL TORTUOSITY SYNDROME: CASE REPORT
| dc.authorid | KARAKURT, CEMŞIT/0000-0002-9246-8107 | |
| dc.authorid | Coucke, Paul J/0000-0001-7119-586X | |
| dc.authorid | Van Maldergem, Lionel/0000-0001-8880-5214; | |
| dc.authorwosid | KARAKURT, CEMŞIT/ABE-2330-2020 | |
| dc.authorwosid | Coucke, Paul J/AAO-2954-2020 | |
| dc.authorwosid | Van Maldergem, Lionel/O-3242-2019 | |
| dc.authorwosid | Van Maldergem, Lionel/G-9849-2017 | |
| dc.contributor.author | Karakurt, C. | |
| dc.contributor.author | Kocak, G. | |
| dc.contributor.author | Elkiran, O. | |
| dc.contributor.author | Coucke, P. J. | |
| dc.contributor.author | Van Maldergem, L. | |
| dc.date.accessioned | 2024-08-04T20:57:11Z | |
| dc.date.available | 2024-08-04T20:57:11Z | |
| dc.date.issued | 2012 | |
| dc.department | İnönü Üniversitesi | en_US |
| dc.description.abstract | Arterial tortuosity syndrome: case report: Arterial tortuosity syndrome (ATS; OMIM 208050) is a rare autosomal recessive condition characterized by dysmorphic features, elongation, tortuosity, and aneurysm of the large and middle sized arteries. We report on a 13-year-old boy who presented with a malformed ascending aorta mimicking coarctation of aorta and a cutis laxa-like facial dysmorphia. Based on angiogram, a diagnosis of ATS was made and subsequently confirmed by a homozygous one base-pair deletion at position g.318 of SLCA10. We stress similarities (facial appearance, inguinal herniae, ..) between ATS and autosomal recessive cutis laxa, both being connective tissue disorders disorganizing the elastin network. | en_US |
| dc.identifier.endpage | 482 | en_US |
| dc.identifier.issn | 1015-8146 | |
| dc.identifier.issue | 4 | en_US |
| dc.identifier.pmid | 23431747 | en_US |
| dc.identifier.startpage | 477 | en_US |
| dc.identifier.uri | https://hdl.handle.net/11616/102398 | |
| dc.identifier.volume | 23 | en_US |
| dc.identifier.wos | WOS:000208958600006 | en_US |
| dc.identifier.wosquality | Q4 | en_US |
| dc.indekslendigikaynak | Web of Science | en_US |
| dc.indekslendigikaynak | PubMed | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | Medecine Et Hygiene | en_US |
| dc.relation.ispartof | Genetic Counseling | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.subject | Arterial tortuosity syndrome | en_US |
| dc.subject | SLC2A10 | en_US |
| dc.title | ARTERIAL TORTUOSITY SYNDROME: CASE REPORT | en_US |
| dc.type | Article | en_US |
