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Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders
Detection of copy number variations (CNVs) is a first-tier clinical diagnostic test for children with neurodevelopmental disorders (NDD), which reveals the genetic cause of the disorder in more than 20%. These are mostly known microdeletion/microduplication syndromes, but variants of unknown clinica...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group UK
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013431/ https://www.ncbi.nlm.nih.gov/pubmed/29930340 http://dx.doi.org/10.1038/s41598-018-27824-0 |