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 Saad Al Shahwan and P. Ellen Grant and Jonathan O'B. Hourihane and Neil D.T. Martin and Christopher A. Walsh},
  journal={Nature Genetics},
  year={2000},
  volume={27},
  pages={225-225}
}
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… CONTINUE READING
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References

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migration

K. Senzaki, M. Ogawa, T. Yagi
2000

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