Open access
Jul 2026
MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.
Functional modelling in zebrafish confirms a loss‑of-function mechanism and highlights species‑dependent differences specifically in the impact of the missense variant on protein function, and provides a cautionary tale about overreliance on animal models as a screening tool for variant classification.
H. Shamseldin, Dana Marafi, Mohammed A Al-Muhaizea et al.
· Scientific Reports · 0 citations