Review
Open access
Aug 2026
A Case Report and a Review of TRAPPC4‐Related TRAPPopathy
W Whole exome sequencing revealed a homozygous splice‐site variant (c.454+3A>G) in the TRAPPC4 gene, confirming the diagnosis of NEDESBA, and emphasizes the critical role of early molecular testing in achieving a precise diagnosis.
Anil Kumar, Ajay Kumar, Arvinder Wander et al.
· International Journal of Dev... · 0 citations