Neonatal Marfan syndrome caused by an exon 25 mutation of the Fibrillin-1 gene

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dc.authorid0000-0002-8238-9106
dc.authorid0000-0003-3836-3117
dc.contributor.authorElçioğlu, Nursel Huriye
dc.contributor.authorAkalın, Figen
dc.contributor.authorElçi̇oğlu, Mustafa Nuri
dc.contributor.authorComeglio, Paolo
dc.contributor.authorChild, Anne H.
dc.date.accessioned2021-06-23T18:54:35Z
dc.date.available2021-06-23T18:54:35Z
dc.date.issued2004
dc.departmentBAİBÜ, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümüen_US
dc.description.abstractNeonatal Marfan syndrome caused by an exon 25 mutation of the Fibrillin-1 gene: We describe a male infant with severe arachnodactyly, hypermobility of the fingers, flexion contractures of elbows, wrists, hips, and knees, microretrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and lens dislocations. Cardiac valve insufficiency and aortic dilatation resulted in cardiac failure, decompensated with digitalisation and death occurred at the age of 4 months. This case represents the severe end of the clinical spectrum of Marfan syndrome, namely neonatal Marfan syndrome. Molecular diagnostic analyses confirmed a de novo exon 25 mutation in the FBN1 gene.en_US
dc.identifier.endpage225en_US
dc.identifier.issn1015-8146
dc.identifier.issue2en_US
dc.identifier.pmid15287423en_US
dc.identifier.scopus2-s2.0-3142588893en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage219en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12491/4500
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-3142588893&partnerID=40&md5=8d2c7833484ca62ede6604cf9e3ffef2
dc.identifier.volume15en_US
dc.identifier.wosWOS:000222686500010en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorElçi̇oğlu, Mustafa Nuri
dc.language.isoenen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectArachnodactylyen_US
dc.subjectEctopia Lentisen_US
dc.subjectFBN1 Geneen_US
dc.subjectNeonatal Marfan Syndromeen_US
dc.titleNeonatal Marfan syndrome caused by an exon 25 mutation of the Fibrillin-1 geneen_US
dc.typeArticleen_US

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Cerrahi Tıp Bilimleri Bölümü Koleksiyonu
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