A CASE OF SECKEL SYNDROME WITH TRICUSPID ATRESIA
dc.contributor.author | Arslan, D. | |
dc.contributor.author | Cimen, D. | |
dc.contributor.author | Guvenc, O. | |
dc.contributor.author | Sert, A. | |
dc.contributor.author | Oktay, A. | |
dc.contributor.author | Oran, B. | |
dc.date.accessioned | 2020-03-26T18:49:06Z | |
dc.date.available | 2020-03-26T18:49:06Z | |
dc.date.issued | 2014 | |
dc.department | Selçuk Üniversitesi | en_US |
dc.description.abstract | A case of Seckel syndrome with tricuspid atresia: Seckel syndrome is an autosomal recessive disease presenting with marked growth retardation, microcephalic dwarfism, some facial and skeletal abnormalities. Tricuspid atresia is a rare and life threatening cyanotic congenital heart diseases, with an incidence of 1% to 3%. It is feature of the anatomically normally related great arteries with a large ventricular septum defect and stenosis of right ventricular outflow tract. Tricuspid atresia has never been reported in patients with Seckel syndrome. Here we report a 15-day-old girl baby diagnosed as having Seckel syndrome with tricuspid atresia. | en_US |
dc.identifier.endpage | 175 | en_US |
dc.identifier.issn | 1015-8146 | en_US |
dc.identifier.issue | 2 | en_US |
dc.identifier.pmid | 25059015 | en_US |
dc.identifier.scopusquality | N/A | en_US |
dc.identifier.startpage | 171 | en_US |
dc.identifier.uri | https://hdl.handle.net/20.500.12395/30525 | |
dc.identifier.volume | 25 | en_US |
dc.identifier.wos | WOS:000338752600006 | 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 | 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.selcuk | 20240510_oaig | en_US |
dc.subject | Seckel syndrome | en_US |
dc.subject | Tricuspid atresia | en_US |
dc.subject | Child | en_US |
dc.title | A CASE OF SECKEL SYNDROME WITH TRICUSPID ATRESIA | en_US |
dc.type | Article | en_US |