The Association of Alagille Syndrome and Craniosynostosis

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dc.contributor.authorYilmaz, Sanem
dc.contributor.authorTurhan, Tuncer
dc.contributor.authorMutluer, Saffet
dc.contributor.authorAydogdu, Sema
dc.date.accessioned2019-10-27T21:53:16Z
dc.date.available2019-10-27T21:53:16Z
dc.date.issued2013
dc.departmentEge Üniversitesien_US
dc.description.abstractAlagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cause of increased intracranial hypertension in Alagille syndrome. It has recently been demonstrated in animal models that Jaggedl gene in which mutations are responsible for Alagille syndrome may also take part in cranial suture formation. We report a child with Alagille syndrome and craniosynostosis who presented with pruritus, elevated liver enzymes, and suspected increased intracranial pressure. (C) 2013 Elsevier Inc. All rights reserved.en_US
dc.identifier.doi10.1016/j.pediatrneurol.2012.10.014en_US
dc.identifier.endpage148en_US
dc.identifier.issn0887-8994
dc.identifier.issue2en_US
dc.identifier.pmid23337010en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage146en_US
dc.identifier.urihttps://doi.org/10.1016/j.pediatrneurol.2012.10.014
dc.identifier.urihttps://hdl.handle.net/11454/47856
dc.identifier.volume48en_US
dc.identifier.wosWOS:000314322100011en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Science Incen_US
dc.relation.ispartofPediatric Neurologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleThe Association of Alagille Syndrome and Craniosynostosisen_US
dc.typeArticleen_US

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