Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta
Abstract Background Intellectual disability is a complex multi‐faceted condition with diverse underlying etiologies. One rare form of intellectual disability is secondary to the loss of TRAPPC9, an activator of NF‐κB and a mediator of intracellular protein processing and trafficking. TRAPPC9 deficie...
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| Hoofdauteurs: | , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Wiley
2020-05-01
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| Reeks: | Molecular Genetics & Genomic Medicine |
| Onderwerpen: | |
| Online toegang: | https://doi.org/10.1002/mgg3.1211 |
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