A case with the combination of bilateral microphthalmia, unilateral pulmonary agenesis, diaphragmatic eventration and atrial septal defect: PDAC syndrome

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dc.contributor.buuauthorDemirkaya, Metin
dc.contributor.buuauthorSevinir, Betül
dc.contributor.buuauthorCanıtez, Yakup
dc.contributor.buuauthorBostan, Özlem
dc.contributor.buuauthorYıldız, Meral
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Pediatrik Onkoloji Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Alerjisi Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Kardiyolojisi Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Göz Hastalıkları Anabilim Dalı.tr_TR
dc.contributor.researcheridAAH-1885-2021tr_TR
dc.contributor.researcheridAAH-1570-2021tr_TR
dc.contributor.scopusid24331130000tr_TR
dc.contributor.scopusid6603199915tr_TR
dc.contributor.scopusid8988954700tr_TR
dc.contributor.scopusid8676936500tr_TR
dc.contributor.scopusid35791194600tr_TR
dc.date.accessioned2022-04-22T07:18:37Z
dc.date.available2022-04-22T07:18:37Z
dc.date.issued2009
dc.description.abstractThe 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.identifier.citationDemirkaya, 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.endpage261tr_TR
dc.identifier.issn0972-3757
dc.identifier.issue3-4tr_TR
dc.identifier.scopus2-s2.0-76049085026tr_TR
dc.identifier.startpage255tr_TR
dc.identifier.urihttps://doi.org/10.1080/09723757.2009.11886076
dc.identifier.urihttps://www.tandfonline.com/doi/abs/10.1080/09723757.2009.11886076
dc.identifier.urihttp://hdl.handle.net/11452/25998
dc.identifier.volume9tr_TR
dc.identifier.wos000273547300007tr_TR
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherKamla-Raj Enterprisesen_US
dc.relation.journalInternational Journal of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCongenital heart diseaseen_US
dc.subjectMicrophthalmiaen_US
dc.subjectPulmonary agenesisen_US
dc.subjectMatthew-wood-syndromeen_US
dc.subjectAnophthalmiaen_US
dc.subjectHypoplasiaen_US
dc.subjectStra6en_US
dc.subjectGastroschisisen_US
dc.subjectMutationsen_US
dc.subjectNewbornen_US
dc.subjectProteinen_US
dc.subjectHerniaen_US
dc.subjectSibsen_US
dc.subjectGenetics & heredityen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeCase reporten_US
dc.subject.emtreeCesarean sectionen_US
dc.subject.emtreeComputer assisted tomographyen_US
dc.subject.emtreeCongenital heart malformationen_US
dc.subject.emtreeDiaphragm eventrationen_US
dc.subject.emtreeDiaphragm herniaen_US
dc.subject.emtreeEchocardiographyen_US
dc.subject.emtreeFamily historyen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeHeart atrium septum defecten_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeInfanten_US
dc.subject.emtreeKaryotypeen_US
dc.subject.emtreeLung agenesisen_US
dc.subject.emtreeMatthew Wood syndromeen_US
dc.subject.emtreeMicrophthalmiaen_US
dc.subject.emtreeMultiple malformation syndromeen_US
dc.subject.emtreeNuclear magnetic resonance imagingen_US
dc.subject.emtreeSyndrome delineationen_US
dc.subject.emtreeSyndrome PDACen_US
dc.subject.emtreeThorax radiographyen_US
dc.subject.scopusMicrophthalmia; Coloboma; Phenotypeen_US
dc.subject.wosGenetics & heredityen_US
dc.titleA case with the combination of bilateral microphthalmia, unilateral pulmonary agenesis, diaphragmatic eventration and atrial septal defect: PDAC syndromeen_US
dc.typeArticle

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