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Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta
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 deficiency has...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216808/ https://www.ncbi.nlm.nih.gov/pubmed/32162493 http://dx.doi.org/10.1002/mgg3.1211 |