GeneticsPLoS GeneticsPeer-reviewed
Mutations in Kinesin Family Member 6 Reveal Specific Role in Ependymal Cell Function and Human Neuro-Cranial Development
Mia J. Konjikusic, Patra Yeetong, Curtis W. Boswell…·Ryan S. Gray
The paper identifies a homozygous KIF6 mutation in a child with neurocranial defects and intellectual disability, showing its role in ependymal cell cilia maintenance and neuro-cranial development through mouse and zebrafish models.