Publication:
Rare Association of Hirschsprung's Disease and Joubert Syndrome

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dc.authorscopusid6603156640
dc.authorscopusid25929913700
dc.authorscopusid56178481600
dc.authorscopusid6603826683
dc.contributor.authorÖzyürek, H.
dc.contributor.authorKayacik, Ö.E.
dc.contributor.authorGüngör, O.
dc.contributor.authorKaragöz, F.
dc.date.accessioned2020-06-21T15:14:23Z
dc.date.available2020-06-21T15:14:23Z
dc.date.issued2008
dc.departmentOndokuz Mayıs Üniversitesien_US
dc.department-temp[Özyürek] Hamit, Faculty of Medicine, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Kayacik] Özlem Eroǧlu, Department of Pediatrics, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Güngör] Olcay, Department of Pediatrics, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Karagöz] Filiz, Department of Pathology, Ondokuz Mayis Üniversitesi, Samsun, Turkeyen_US
dc.description.abstractWe present the case of an 18-month-old boy with Hirschsprung's disease who had psychomotor retardation. His clinical and radiological findings were consistent with Joubert syndrome. The patient was the second case to show the association between Hirschsprung's disease and Joubert syndrome in the literature. As in our case, association of these entities by chance seems to be unlikely. Genetic analysis of new Joubert syndrome and Hirschsprung's disease patients may identify the candidate genes. © 2007 Springer-Verlag.en_US
dc.identifier.doi10.1007/s00431-007-0504-1
dc.identifier.endpage477en_US
dc.identifier.issn0340-6199
dc.identifier.issn1432-1076
dc.identifier.issue4en_US
dc.identifier.pmid17516083
dc.identifier.scopus2-s2.0-40049088360
dc.identifier.scopusqualityQ1
dc.identifier.startpage475en_US
dc.identifier.urihttps://doi.org/10.1007/s00431-007-0504-1
dc.identifier.volume167en_US
dc.identifier.wosWOS:000253573400021
dc.identifier.wosqualityQ1
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofEuropean Journal of Pediatricsen_US
dc.relation.journalEuropean Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHirschsprung's Diseaseen_US
dc.subjectJoubert Syndromeen_US
dc.subjectNeurocristopathyen_US
dc.titleRare Association of Hirschsprung's Disease and Joubert Syndromeen_US
dc.typeArticleen_US
dspace.entity.typePublication

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