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Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia

Classical lissencephaly, or isolated lissencephaly sequence (ILS), and subcortical band heterotopia (SBH) are neuronal migration disorders associated with severe mental retardation and epilepsy. Abnormalities of the LIS1 and DCX genes are implicated in the majority of patients with these disorders a...

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Detalhes bibliográficos
Main Authors: Haverfield, Eden V, Whited, Amanda J, Petras, Kristin S, Dobyns, William B, Das, Soma
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986498/
https://ncbi.nlm.nih.gov/pubmed/19050731
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.213
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