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Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/31674
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dc.contributor.authorHalliday, B J-
dc.contributor.authorBaynam, G-
dc.contributor.authorEwans, L-
dc.contributor.authorGreenhalgh, L-
dc.contributor.authorLeventer, R J-
dc.contributor.authorPilz, D T-
dc.contributor.authorSachdev, R-
dc.contributor.authorScheffer, I E-
dc.contributor.authorMarkie, D M-
dc.contributor.authorMcGillivray, G-
dc.contributor.authorRobertson, S P-
dc.contributor.authorMandelstam, S-
dc.date2022-
dc.date.accessioned2023-01-12T02:00:00Z-
dc.date.available2023-01-12T02:00:00Z-
dc.date.issued2022-11-
dc.identifier.citationAJNR. American Journal of Neuroradiology 2022en_US
dc.identifier.issn1936-959X-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/31674-
dc.description.abstractZhu-Tokita-Takenouchi-Kim syndrome is a severe multisystem malformation disorder characterized by developmental delay and a diverse array of congenital abnormalities. However, these currently identified phenotypic components provide limited guidance in diagnostic situations, due to both the nonspecificity and variability of these features. Here we report a case series of 7 individuals with a molecular diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome, 5 ascertained by their presentation with the neuronal migration disorder, periventricular nodular heterotopia.en_US
dc.language.isoeng-
dc.subjectZhu-Tokita-Takenouchi-Kim Syndromeen_US
dc.titleDistinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.en_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleAJNR. American Journal of Neuroradiologyen_US
dc.identifier.affiliationFrom the Departments of Women's and Children's Health (B.J.H., S.P.R.) benjamin.halliday@otago.ac.nz.en_US
dc.identifier.affiliationWestern Australian Register of Developmental Anomalies and Genetic Services of Western Australia (G.B.), Undiagnosed Diseases Program, King Edward Memorial Hospital, Perth, Australia.en_US
dc.identifier.affiliationCentre for Population Genomics (L.E.), Garvan Institute of Medical Research, Sydney, Australia.en_US
dc.identifier.affiliationLiverpool Centre for Genomic Medicine (L.G.), Liverpool Women's Hospital, Liverpool, England.en_US
dc.identifier.affiliationMurdoch Children's Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia.en_US
dc.identifier.affiliationWest of Scotland Genetics Service (D.T.P.), Queen Elizabeth University Hospital, Glasgow, UK.en_US
dc.identifier.affiliationCentre for Clinical Genetics (L.E., R.S.), Sydney Children's Hospital, Sydney, Australia.en_US
dc.identifier.affiliationPathology (D.M.M.), OtagoMedical School, University of Otago, Dunedin, New Zealand.en_US
dc.identifier.affiliationAustin Healthen_US
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Healthen_US
dc.identifier.affiliationNeurologyen_US
dc.identifier.doi10.3174/ajnr.A7663en_US
dc.type.contentTexten_US
dc.identifier.orcid0000-0002-7330-7797en_US
dc.identifier.orcid0000-0003-0362-5607en_US
dc.identifier.orcid0000-0002-2311-2174en_US
dc.identifier.orcid0000-0001-5452-9194en_US
dc.identifier.orcid0000-0002-3878-9057en_US
dc.identifier.orcid0000-0002-5181-7809en_US
dc.identifier.orcid0000-0001-6287-0819en_US
dc.identifier.pubmedid36229163-
dc.description.volume43-
dc.description.issue11-
dc.description.startpage1660-
dc.description.endpage1666-
dc.subject.meshtermssecondaryBrain/pathology-
dc.subject.meshtermssecondaryBrain Diseases/pathology-
dc.subject.meshtermssecondaryIntellectual Disability/pathology-
item.languageiso639-1en-
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.cerifentitytypePublications-
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