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A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract
Mutations in DYNC1H1, the gene encoding the largest cytoplasmic dynein, have been associated with a wide spectrum of neurodegenerative disorders. In this study, we describe a child in whom a novel de novo likely pathogenic variant in the motor domain of DYCN1H1 was identified through whole exome seq...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908276/ https://www.ncbi.nlm.nih.gov/pubmed/27331017 http://dx.doi.org/10.1016/j.mgene.2016.05.004 |