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

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 migration is known to be associated with mutations i...

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Detalles Bibliográficos
Autores principales: Markus, Fenja, Kannengießer, Annika, Näder, Patricia, Atigbire, Paul, Scholten, Alexander, Vössing, Christine, Bültmann, Eva, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8612930/
https://www.ncbi.nlm.nih.gov/pubmed/34211111
http://dx.doi.org/10.1038/s10038-021-00947-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8612930/
https://www.ncbi.nlm.nih.gov/pubmed/34211111
http://dx.doi.org/10.1038/s10038-021-00947-5

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