Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.11851/7122
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dc.contributor.authorOkulu, Emel-
dc.contributor.authorTunç, Gaffari-
dc.contributor.authorErdeve, Ömer-
dc.contributor.authorMumcu, Yelda-
dc.contributor.authorAtaşay, Begüm-
dc.contributor.authorİnce, Erdal-
dc.contributor.authorArsan, Saadet-
dc.date.accessioned2021-09-11T15:55:45Z-
dc.date.available2021-09-11T15:55:45Z-
dc.date.issued2018-
dc.identifier.issn0325-0075-
dc.identifier.issn1668-3501-
dc.identifier.urihttps://doi.org/10.5546/aap.2018.eng.e609-
dc.identifier.urihttps://hdl.handle.net/20.500.11851/7122-
dc.description.abstractNetherton syndrome (NS) is a rare, autosomal recessive disease characterized with congenital ichthyosiform erythroderma, hair abnormality and atopic manifestations. This syndrome is caused by recessive mutation in the SPINK5 gene. Disease manifestations vary considerably among NS individuals. We report a newborn presented with severe respiratory insufficiency, hypothermia and erythroderma, was diagnosed as having NS and confirmed with molecular genetic testing.en_US
dc.language.isoenen_US
dc.publisherSoc Argentina Pediatriaen_US
dc.relation.ispartofArchivos Argentinos De Pediatriaen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectInfant newbornen_US
dc.subjectNetherton syndromeen_US
dc.subjectrespiratory insufficiencyen_US
dc.titleNetherton Syndrome: a Neonatal Case With Respiratory Insufficiencyen_US
dc.typeOther Type of Reporten_US
dc.departmentFaculties, School of Medicine, Department of Internal Medical Sciencesen_US
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.identifier.volume116en_US
dc.identifier.issue4en_US
dc.identifier.startpageE609en_US
dc.identifier.endpageE611en_US
dc.authorid0000-0002-9114-5293-
dc.authorid0000-0002-3193-0812-
dc.identifier.wosWOS:000439814600027-
dc.identifier.scopus2-s2.0-85051344202-
dc.institutionauthorMumcu, Yelda-
dc.identifier.pmid30016041-
dc.identifier.doi10.5546/aap.2018.eng.e609-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.scopusqualityQ3-
dc.identifier.wosqualityQ4-
item.openairetypeOther Type of Report-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextopen-
item.languageiso639-1en-
item.cerifentitytypePublications-
item.fulltextWith Fulltext-
Appears in Collections:Dahili Tıp Bilimleri Bölümü / Department of Internal Medical Sciences
PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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