Arterial tortuosity syndrome: Case report

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dc.authorscopusid11939830700
dc.authorscopusid6701447288
dc.authorscopusid15757198100
dc.authorscopusid26644783600
dc.authorscopusid56214168800
dc.contributor.authorKarakurt C.
dc.contributor.authorKoçak G.
dc.contributor.authorElkiran Ö.
dc.contributor.authorCoucke P.J.
dc.contributor.authorVan Maldergem L.
dc.date.accessioned2024-08-04T19:59:40Z
dc.date.available2024-08-04T19:59:40Z
dc.date.issued2012
dc.departmentİnönü Üniversitesien_US
dc.description.abstractArterial 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.endpage483en_US
dc.identifier.issn1015-8146
dc.identifier.issue4en_US
dc.identifier.pmid23431747en_US
dc.identifier.scopus2-s2.0-84873341524en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage477en_US
dc.identifier.urihttps://hdl.handle.net/11616/90806
dc.identifier.volume23en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectArterial tortuosity syndromeen_US
dc.subjectSLC2A10en_US
dc.titleArterial tortuosity syndrome: Case reporten_US
dc.typeArticleen_US

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