Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. [electronic resource]
- Proceedings of the National Academy of Sciences of the United States of America Mar 2008
- 4232-6 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1091-6490
10.1073/pnas.0710010105 doi
Adult Aged Arm Base Sequence Cerebellar Diseases--congenital Chromosomes, Human, Pair 17--genetics Chromosomes, Human, Pair 9--genetics Female Gait Heterozygote Humans Infant Leg Locomotion--genetics Magnetic Resonance Imaging Male Middle Aged Mutation--genetics Pedigree Phenotype Receptors, LDL--genetics Reelin Protein Syndrome