The neurological aspects related to POGZ mutation: case report and review of CNS malformations and epilepsy
- 1 April 2020
- journal article
- letter
- Published by Springer Science and Business Media LLC in Acta Neurologica Belgica
- Vol. 120 (2), 447-450
- https://doi.org/10.1007/s13760-019-01122-6
Abstract
No abstract availableThis publication has 7 references indexed in Scilit:
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- De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZJournal of Molecular Psychiatry, 2016
- Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersAmerican Journal of Human Genetics, 2016
- POGZ truncating alleles cause syndromic intellectual disabilityGenome Medicine, 2016
- Cerebro-cerebellar circuits in autism spectrum disorderFrontiers in Neuroscience, 2015
- De novo POGZ mutations are associated with neurodevelopmental disorders and microcephalyCold Spring Harbor Molecular Case Studies, 2015
- A case of autism spectrum disorder arising from a de novo missense mutation in POGZJournal of Human Genetics, 2015