New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum

X-linked isolated lissencephaly sequence and subcortical band heterotopia are allelic human disorders associated with mutations of doublecortin (DCX), giving both familial and sporadic forms. DCX encodes a microtubule-associated protein involved in neuronal migration during brain development. Struct...

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Autors principals: Bahi-Buisson, Nadia, Souville, Isabelle, Fourniol, Franck J., Toussaint, Aurelie, Moores, Carolyn A., Houdusse, Anne, Yves Lemaitre, Jean, Poirier, Karine, Khalaf-Nazzal, Reham, Hully, Marie, Louis Leger, Pierre, Elie, Caroline, Boddaert, Nathalie, Beldjord, Cherif, Chelly, Jamel, Francis, Fiona
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2013
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3562079/
https://ncbi.nlm.nih.gov/pubmed/23365099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws323
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