Review
Aug 2026
Expanding the clinical and molecular spectrum of SETD5, NEDD4L, and TBL1X related disorders: A case report and literature review.
To the authors' knowledge, this is the first report of such a unique overlap, highlighting the importance of considering multilocus genomic variation in heterogeneous neurodevelopmental presentations.
M. Cassone, A. Moschella, D. Mei et al.
· Gene · 0 citations