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Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene
BACKGROUND: Intellectual disability/developmental delay is a complex condition with extraordinary heterogeneity. A large proportion of patients lacks a specific diagnosis. Next generation sequencing, enabling identification of genetic variations in multiple genes, has become an efficient strategy fo...
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| Wydane w: | BMC Med Genet |
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| Główni autorzy: | , , , , , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BioMed Central
2019
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6518638/ https://ncbi.nlm.nih.gov/pubmed/31088393 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0794-y |
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