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https://ahro.austin.org.au/austinjspui/handle/1/31674| Title: | Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome. | Austin Authors: | Halliday, B J;Baynam, G;Ewans, L;Greenhalgh, L;Leventer, R J;Pilz, D T;Sachdev, R;Scheffer, I E;Markie, D M;McGillivray, G;Robertson, S P;Mandelstam, S | Affiliation: | From the Departments of Women's and Children's Health (B.J.H., S.P.R.) benjamin.halliday@otago.ac.nz. Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia (G.B.), Undiagnosed Diseases Program, King Edward Memorial Hospital, Perth, Australia. Centre for Population Genomics (L.E.), Garvan Institute of Medical Research, Sydney, Australia. Liverpool Centre for Genomic Medicine (L.G.), Liverpool Women's Hospital, Liverpool, England. Murdoch Children's Research Institute (R.J.L., I.E.S., G.M., S.M.), Melbourne, Australia. West of Scotland Genetics Service (D.T.P.), Queen Elizabeth University Hospital, Glasgow, UK. Centre for Clinical Genetics (L.E., R.S.), Sydney Children's Hospital, Sydney, Australia. Pathology (D.M.M.), OtagoMedical School, University of Otago, Dunedin, New Zealand. Austin Health The Florey Institute of Neuroscience and Mental Health Neurology |
Issue Date: | Nov-2022 | Date: | 2022 | Publication information: | AJNR. American Journal of Neuroradiology 2022 | Abstract: | Zhu-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. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/31674 | DOI: | 10.3174/ajnr.A7663 | ORCID: | 0000-0002-7330-7797 0000-0003-0362-5607 0000-0002-2311-2174 0000-0001-5452-9194 0000-0002-3878-9057 0000-0002-5181-7809 0000-0001-6287-0819 |
Journal: | AJNR. American Journal of Neuroradiology | Start page: | 1660 | End page: | 1666 | PubMed URL: | 36229163 | ISSN: | 1936-959X | Type: | Journal Article | Subjects: | Zhu-Tokita-Takenouchi-Kim Syndrome Brain/pathology Brain Diseases/pathology Intellectual Disability/pathology |
| Appears in Collections: | Journal articles |
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