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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.departmentTıp Fakültesi
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentGöz Hastalıkları Ana Bilim Dalı
dc.contributor.departmentPediatrik Onkoloji Ana Bilim Dalı
dc.contributor.departmentÇocuk Alerjisi Ana Bilim Dalı
dc.contributor.departmentÇocuk Kardiyolojisi Ana Bilim Dalı
dc.contributor.researcheridAAH-1885-2021
dc.contributor.researcheridAAH-1570-2021
dc.contributor.scopusid24331130000
dc.contributor.scopusid6603199915
dc.contributor.scopusid8988954700
dc.contributor.scopusid8676936500
dc.contributor.scopusid35791194600
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.
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.
dc.identifier.endpage261
dc.identifier.issn0972-3757
dc.identifier.issue3-4
dc.identifier.scopus2-s2.0-76049085026
dc.identifier.startpage255
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.volume9
dc.identifier.wos000273547300007
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherKamla-Raj Enterprises
dc.relation.journalInternational Journal of Human Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectCongenital heart disease
dc.subjectMicrophthalmia
dc.subjectPulmonary agenesis
dc.subjectMatthew-wood-syndrome
dc.subjectAnophthalmia
dc.subjectHypoplasia
dc.subjectStra6
dc.subjectGastroschisis
dc.subjectMutations
dc.subjectNewborn
dc.subjectProtein
dc.subjectHernia
dc.subjectSibs
dc.subjectGenetics & heredity
dc.subject.emtreeArticle
dc.subject.emtreeCase report
dc.subject.emtreeCesarean section
dc.subject.emtreeComputer assisted tomography
dc.subject.emtreeCongenital heart malformation
dc.subject.emtreeDiaphragm eventration
dc.subject.emtreeDiaphragm hernia
dc.subject.emtreeEchocardiography
dc.subject.emtreeFamily history
dc.subject.emtreeFemale
dc.subject.emtreeHeart atrium septum defect
dc.subject.emtreeHuman
dc.subject.emtreeInfant
dc.subject.emtreeKaryotype
dc.subject.emtreeLung agenesis
dc.subject.emtreeMatthew Wood syndrome
dc.subject.emtreeMicrophthalmia
dc.subject.emtreeMultiple malformation syndrome
dc.subject.emtreeNuclear magnetic resonance imaging
dc.subject.emtreeSyndrome delineation
dc.subject.emtreeSyndrome PDAC
dc.subject.emtreeThorax radiography
dc.subject.scopusMicrophthalmia; Coloboma; Phenotype
dc.subject.wosGenetics & heredity
dc.titleA case with the combination of bilateral microphthalmia, unilateral pulmonary agenesis, diaphragmatic eventration and atrial septal defect: PDAC syndrome
dc.typeArticle
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Pediatrik Onkoloji Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Çocuk Alerjisi Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Çocuk Kardiyolojisi Ana Bilim Dalı
local.contributor.departmentTıp Fakültesi/Göz Hastalıkları Ana Bilim Dalı
local.indexed.atScopus
local.indexed.atWOS

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