Publication:
ALX4 related parietal foramina mimicking encephalocele in prenatal period

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dc.contributor.coauthorSivrikoz, Tuğba Saraç
dc.contributor.coauthorAltunoğlu, Umut
dc.contributor.coauthorKalelioğlu, İbrahim Halil
dc.contributor.coauthorYüksel, Atıl
dc.contributor.coauthorUyGüner, Oya Zehra
dc.contributor.coauthorHas, Recep
dc.contributor.departmentSchool of Medicine
dc.contributor.facultymemberYes
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:54:23Z
dc.date.issued2016
dc.description.abstractWhat's Already Known About This Topic? PFM is an autosomal dominantly inherited genetic condition, caused by mutations in ALX4 and MSX2 genes. Reports on prenatally diagnosed cases are rare, and encephalocele remains the most leading differential diagnosis. What Does This Study Add? The full clinical spectrum of autosomal dominant ALX4-related PFM in affected family members can be demonstrated through identification of a prenatal case, by close collaboration of perinatologists and clinical geneticists, as in the four generation family reported herein. © 2016 John Wiley & Sons, Ltd.
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.openaccessNO
dc.description.peerreviewstatusN/A
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuTÜBİTAK
dc.description.sponsorshipScientific and Technological Research Council of Turkey (TUBITAK) [112S398]
dc.description.sponsorshipEuropean Area Network of Research (ERA-Net) This work received support from the Scientific and Technological Research Council of Turkey (TUBITAK, grant number 112S398 to HK). The CRANIRARE2 consortium is supported by European Area Network of Research (ERA-Net).
dc.description.studentonlypublicationNo
dc.description.studentpublicationNo
dc.description.versionN/A
dc.identifier.WoSQuartileQ1
dc.identifier.doi10.1002/pd.4826
dc.identifier.eissn1097-0223
dc.identifier.embargoN/A
dc.identifier.endpage593
dc.identifier.grantno112S398
dc.identifier.issn0197-3851
dc.identifier.issue6
dc.identifier.pubmed27080046
dc.identifier.scopus2-s2.0-84969915725
dc.identifier.startpage591
dc.identifier.urihttps://doi.org/10.1002/pd.4826
dc.identifier.urihttps://hdl.handle.net/20.500.14288/15169
dc.identifier.volume36
dc.identifier.wos000378541100014
dc.keywordsHomeobox gene
dc.keywordsOssification
dc.keywordsPhenotype
dc.keywordsAnomalies
dc.keywordsMutation
dc.keywordsPermagna
dc.keywordsDefects
dc.keywordsMsx2
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofPrenatal Diagnosis
dc.relation.openaccessN/A
dc.relation.projectKraniofasiyal Malformasyonlara Klinik ve Genetik Yaklaşım
dc.rightsN/A
dc.subjectGenetics
dc.subjectClinical genetics
dc.subjectPrenatal diagnosis
dc.subjectGynecology
dc.titleALX4 related parietal foramina mimicking encephalocele in prenatal period
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.kuauthorKayserili, Hülya
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