Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome

Autosomal recessive Cohen syndrome is a neurodevelopmental disorder characterized by postnatal microcephaly, intellectual disability, and a typical facial gestalt. Genetic variants in VPS13B have been found to cause Cohen syndrome, but have also been linked to autism, retinal disease, primary immuno...

Descripción completa

Detalles Bibliográficos
Autores principales: Zorn, Malte, Kühnisch, Jirko, Bachmann, Sebastian, Seifert, Wenke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9188546/
https://www.ncbi.nlm.nih.gov/pubmed/35690661
http://dx.doi.org/10.1038/s41598-022-13717-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9188546/
https://www.ncbi.nlm.nih.gov/pubmed/35690661
http://dx.doi.org/10.1038/s41598-022-13717-w

Ejemplares similares