Review
Open access
Aug 2026
WLS-related Zaki syndrome: New clinical features and evidence for p.(Tyr478Cys) variant as a possible mutational hotspot.
A comparison of all reported ZKS patients suggests that this syndrome displays a recognizable pattern of developmental delay, intellectual disability, postnatal microcephaly, facial dysmorphism, skeletal and ocular anomalies, and short stature.
Naeim Ehtesham, M. Mazaheri, Zahra Sadr et al.
· European Journal of Medical... · 0 citations