ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivi...
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity
About this item
Full title
Author / Creator
Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
The primary anatomical defect leading to periventricular nodular heterotopia occurs within the neural progenitors along the neuroepithelial lining of the lateral ventricles and results from a defect in the initiation of neuronal migration, following disruption of the neuroependyma and impaired neuronal motility. Growing evidence indicates that the...
Alternative Titles
Full title
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2559432591
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2559432591
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2021-107783
