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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
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| Materias: | |
| 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 |