Please use this identifier to cite or link to this item: 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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