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...

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Detalles Bibliográficos
Autores principales: Hertecant, Jozef, Komara, Makanko, Nagi, Aslam, Suleiman, Jehan, Al-Gazali, Lihadh, Ali, Bassam R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Article
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

Internet

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

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