Výsledky vyhledávání - "Annika Kannengießer"

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects

Autor: Annika Kannengießer, Patricia Näder, Marta Owczarek-Lipska, Paul Atigbire, Christine Vössing, Fenja Markus, G. Christoph Korenke, Eva Bültmann, John Neidhardt, Alexander Scholten

Publikováno v: Journal of Human Genetics

Heterotopia is a brain malformation caused by a failed migration of cortical neurons during development. Clinical symptoms of heterotopia vary in severity of intellectual disability and may be associated with epileptic disorders. Abnormal neuronal mi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f9802b6805733e3a1fbf66c0c27e0d1
https://pubmed.ncbi.nlm.nih.gov/34211111

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