Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation

We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic–mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic–mesencephalic junction with a characterist...

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Detalhes bibliográficos
Main Authors: Zaki, Maha S., Saleem, Sahar N., Dobyns, William B., Barkovich, A. James, Bartsch, Hauke, Dale, Anders M., Ashtari, Manzar, Akizu, Naiara, Gleeson, Joseph G., Grijalvo-Perez, Ana Maria
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3407423/
https://ncbi.nlm.nih.gov/pubmed/22822038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws162
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