Variants in DOCK3 cause developmental delay and hypotonia

The DOCK3 gene encodes the Dedicator of cytokinesis 3 (DOCK3) protein, which belongs to the family of guanine nucleotide exchange factors and is expressed almost exclusively in the brain and spinal cord. We used whole exome sequencing (WES) to investigate the molecular cause of developmental delay a...

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Publicado en:Eur J Hum Genet
Main Authors: Wiltrout, Kimberly, Ferrer, Alejandro, van de Laar, Ingrid, Namekata, Kazuhiko, Harada, Takayuki, Klee, Eric W., Zimmerman, Michael T., Cousin, Margot A., Kempainen, Jennifer L., Babovic-Vuksanovic, Dusica, van Slegtenhorst, Marjon A., Aarts-Tesselaar, Coranne D., Schnur, Rhonda E., Andrews, Marisa, Shinawi, Marwan
Formato: Artigo
Idioma:Inglês
Publicado: Springer International Publishing 2019
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777627/
https://ncbi.nlm.nih.gov/pubmed/30976111
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0397-2
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