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A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing
Intellectual disability is a common condition with multiple etiologies. The number of monogenic causes has increased steadily in recent years due to the implementation of next generation sequencing. Here, we describe a 2-year-old boy with global developmental delay and intellectual disability. The c...
Shranjeno v:
| izdano v: | J Pediatr Genet |
|---|---|
| Main Authors: | , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Georg Thieme Verlag KG
2019
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| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6375718/ https://ncbi.nlm.nih.gov/pubmed/30775047 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1676649 |
| Oznake: |
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