A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

@article{Chong1997ARO,
  title={A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.},
  author={Samuel S Chong and Svetlana D. Pack and Anna V Roschke and Akira Tanigami and Rosalba Carrozzo and Adam P C Smith and William B Dobyns and D. H. Ledbetter},
  journal={Human molecular genetics},
  year={1997},
  volume={6 2},
  pages={147-55}
}
Miller-Dieker syndrome (MDS) is a multiple malformation syndrome characterized by classical lissencephaly and a characteristic facies. It is associated with visible or submicroscopic deletions within chromosome band 17p13.3. Lissencephaly without facial dysmorphism has also been observed and is referred to as isolated lissencephaly sequence (ILS). Apparently partial and non-overlapping deletions of the 5' or 3' end of a candidate gene LIS1 in one ILS and one MDS patient had suggested that MDS… CONTINUE READING

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