MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance - Dobyns, William B.; Aldinger, Kimberly A.; Ishak, Gisele E.; Mirzaa, Ghayda M.; Timms, Andrew E.; Grout, Megan E.; Dremmen, Marjolein H.G.; Schot, Rachel; Vandervore, Laura; van Slegtenhorst, Marjon A.; Wilke, Martina; Kasteleijn, Esmee; et al. (American journal of human genetics, 2018)
Keywords: ACF7; actin; Adolescent; Axon Guidance - genetics; axonal pathfinding; Brain Stem - pathology; brainstem hypoplasia; Cell Movement - genetics; Child; Child, Preschool; cilia; Cilia - genetics; Conserved Sequence - genetics; cytoskeleton; Female; Humans; lissencephaly; Lissencephaly - genetics; MACF1; Male; Microfilament Proteins - genetics; microtubules; Microtubules - genetics; midline crossing; Mutation - genetics; Nervous System Malformations - genetics; Neurons - pathology; Zinc - metabolism; MACF1; actin; lissencephaly; axonal pathfinding; brainstem hypoplasia; cytoskeleton; cilia; microtubules; ACF7; midline crossing