Related Experiment Video

Updated: Oct 1, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Severe neurodevelopmental phenotype with multisystem involvement in VPS16-related mucopolysaccharidosis-like syndrome

Kutlay Gür1, Dilek Uludağ Alkaya1, Nilay Güneş1

  • 1Cerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İstanbul University Cerrahpasa, İstanbul, Türkiye.

Neurogenetics
|September 29, 2026
PubMed

Keywords:
VPS16Brain diseases, metabolic, inbornDevelopmental disabilitiesEpilepsyMucopolysaccharidosesMuscle spasticity

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