Corpus ID: 20226533

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.

@article{Reiner1993IsolationOA,
  title={Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.},
  author={O. Reiner and R. Carrozzo and Y. Shen and M. Wehnert and F. Faustinella and W. Dobyns and C. Caskey and D. Ledbetter},
  journal={Nature},
  year={1993},
  volume={364 6439},
  pages={
          717-21
        }
}

O. Reiner, R. Carrozzo, +5 authors D. Ledbetter

Published 1993

Medicine

Nature

Lissencephaly (agyria-pachygyria) is a human brain malformation manifested by a smooth cerebral surface and abnormal neuronal migration. Identification of the gene(s) involved in this disorder would facilitate molecular dissection of normal events in brain development. Type 1 lissencephaly occurs either as an isolated abnormality or in association with dysmorphic facial appearance in patients with Miller-Dieker syndrome. About 15% of patients with isolated lissencephaly and more than 90% of… CONTINUE READING

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