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

por Markus, Fenja, Kannengießer, Annika, Näder, Patricia, Atigbire, Paul, Scholten, Alexander, Vössing, Christine, Bültmann, Eva, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John
Publicado 2021