Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

@article{Hong2000AutosomalRL,
  title={Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations},
  author={Susan E Hong and Yin Yao Shugart and David T. Huang and S. A. Al Shahwan and Patricia Ellen Grant and Jonathan O’B. Hourihane and N D Martin and Christopher A. Walsh},
  journal={Nature Genetics},
  year={2000},
  volume={26},
  pages={93-96}
}
Normal development of the cerebral cortex requires long-range migration of cortical neurons from proliferative regions deep in the brain. Lissencephaly (“smooth brain,” from “lissos,” meaning smooth, and “encephalos,” meaning brain) is a severe developmental disorder in which neuronal migration is impaired, leading to a thickened cerebral cortex whose normally folded contour is simplified and smooth. Two identified lissencephaly genes do not account for all known cases, and additional… Expand
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