Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia

OBJECTIVE: We aimed to identify pathogenic variants in a girl with epilepsy, developmental delay, cerebellar ataxia, oral motor difficulty, and structural brain abnormalities with the use of whole-exome sequencing. METHODS: Whole-exome trio analysis and molecular functional studies were performed in...

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Dades bibliogràfiques
Publicat a:Neurol Genet
Autors principals: Smits, Daphne J., Schot, Rachel, Wilke, Martina, van Slegtenhorst, Marjon, de Wit, Marie Claire Y., Dremmen, Marjolein H.G., Dobyns, William B., Barkovich, A. James, Mancini, Grazia M.S.
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2021
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7830234/
https://ncbi.nlm.nih.gov/pubmed/33928188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000558
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