Bu öğeden alıntı yapmak, öğeye bağlanmak için bu tanımlayıcıyı kullanınız:
http://hdl.handle.net/11452/25998
Tüm üstveri kaydı
Dublin Core Alanı | Değer | Dil |
---|---|---|
dc.date.accessioned | 2022-04-22T07:18:37Z | - |
dc.date.available | 2022-04-22T07:18:37Z | - |
dc.date.issued | 2009 | - |
dc.identifier.citation | Demirkaya, M. vd. (2009). "A case with the combination of bilateral microphthalmia, unilateral pulmonary agenesis, diaphragmatic eventration and atrial septal defect: PDAC syndrome". International Journal of Human Genetics, 9(3-4), 255-261. | en_US |
dc.identifier.issn | 0972-3757 | - |
dc.identifier.uri | https://doi.org/10.1080/09723757.2009.11886076 | - |
dc.identifier.uri | https://www.tandfonline.com/doi/abs/10.1080/09723757.2009.11886076 | - |
dc.identifier.uri | http://hdl.handle.net/11452/25998 | - |
dc.description.abstract | The combination of pulmonary agenesis and anophtalmia or microphthalmia has been described previously. This condition is known as Matthew-Wood syndrome and PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, aophthalmia/microphthalmia, and cardiac defect). We report a sporadic case of female infant with the combination of bilateral microphthalmia, unilateral right pulmonary agenesis and diaphragmatic eventration in addition to atrial septal defect (ASD) suggesting PDAC syndrome. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Kamla-Raj Enterprises | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Congenital heart disease | en_US |
dc.subject | Microphthalmia | en_US |
dc.subject | Pulmonary agenesis | en_US |
dc.subject | Matthew-wood-syndrome | en_US |
dc.subject | Anophthalmia | en_US |
dc.subject | Hypoplasia | en_US |
dc.subject | Stra6 | en_US |
dc.subject | Gastroschisis | en_US |
dc.subject | Mutations | en_US |
dc.subject | Newborn | en_US |
dc.subject | Protein | en_US |
dc.subject | Hernia | en_US |
dc.subject | Sibs | en_US |
dc.subject | Genetics & heredity | en_US |
dc.title | A case with the combination of bilateral microphthalmia, unilateral pulmonary agenesis, diaphragmatic eventration and atrial septal defect: PDAC syndrome | en_US |
dc.type | Article | en_US |
dc.identifier.wos | 000273547300007 | tr_TR |
dc.identifier.scopus | 2-s2.0-76049085026 | tr_TR |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Onkoloji Anabilim Dalı. | tr_TR |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Alerjisi Anabilim Dalı. | tr_TR |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Kardiyolojisi Anabilim Dalı. | tr_TR |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Göz Hastalıkları Anabilim Dalı. | tr_TR |
dc.identifier.startpage | 255 | tr_TR |
dc.identifier.endpage | 261 | tr_TR |
dc.identifier.volume | 9 | tr_TR |
dc.identifier.issue | 3-4 | tr_TR |
dc.relation.journal | International Journal of Human Genetics | en_US |
dc.contributor.buuauthor | Demirkaya, Metin | - |
dc.contributor.buuauthor | Sevinir, Betül | - |
dc.contributor.buuauthor | Canıtez, Yakup | - |
dc.contributor.buuauthor | Bostan, Özlem | - |
dc.contributor.buuauthor | Yıldız, Meral | - |
dc.contributor.researcherid | AAH-1885-2021 | tr_TR |
dc.contributor.researcherid | AAH-1570-2021 | tr_TR |
dc.subject.wos | Genetics & heredity | en_US |
dc.indexed.wos | SCIE | en_US |
dc.indexed.scopus | Scopus | en_US |
dc.contributor.scopusid | 24331130000 | tr_TR |
dc.contributor.scopusid | 6603199915 | tr_TR |
dc.contributor.scopusid | 8988954700 | tr_TR |
dc.contributor.scopusid | 8676936500 | tr_TR |
dc.contributor.scopusid | 35791194600 | tr_TR |
dc.subject.scopus | Microphthalmia; Coloboma; Phenotype | en_US |
dc.subject.emtree | Article | en_US |
dc.subject.emtree | Case report | en_US |
dc.subject.emtree | Cesarean section | en_US |
dc.subject.emtree | Computer assisted tomography | en_US |
dc.subject.emtree | Congenital heart malformation | en_US |
dc.subject.emtree | Diaphragm eventration | en_US |
dc.subject.emtree | Diaphragm hernia | en_US |
dc.subject.emtree | Echocardiography | en_US |
dc.subject.emtree | Family history | en_US |
dc.subject.emtree | Female | en_US |
dc.subject.emtree | Heart atrium septum defect | en_US |
dc.subject.emtree | Human | en_US |
dc.subject.emtree | Infant | en_US |
dc.subject.emtree | Karyotype | en_US |
dc.subject.emtree | Lung agenesis | en_US |
dc.subject.emtree | Matthew Wood syndrome | en_US |
dc.subject.emtree | Microphthalmia | en_US |
dc.subject.emtree | Multiple malformation syndrome | en_US |
dc.subject.emtree | Nuclear magnetic resonance imaging | en_US |
dc.subject.emtree | Syndrome delineation | en_US |
dc.subject.emtree | Syndrome PDAC | en_US |
dc.subject.emtree | Thorax radiography | en_US |
Koleksiyonlarda Görünür: | Scopus Web of Science |
Bu öğenin dosyaları:
Bu öğeyle ilişkili dosya bulunmamaktadır.
DSpace'deki bütün öğeler, aksi belirtilmedikçe, tüm hakları saklı tutulmak şartıyla telif hakkı ile korunmaktadır.