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...

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Detalles Bibliográficos
Autores principales: Wilton, Katelynn M., Gunderson, Lauren B., Hasadsri, Linda, Wood, Christopher P., Schimmenti, Lisa A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
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

Internet

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

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