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...
Main Authors: | Katelynn M. Wilton, Lauren B. Gunderson, Linda Hasadsri, Christopher P. Wood, Lisa A. Schimmenti |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-05-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1211 |
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