Open access
Jul 2026
Claudin‐11–Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms
This case supports an autosomal recessive mechanism of CLDN11‐related disease, which differs from the dominant stop‐loss variants reported previously, and broaden the mutational spectrum and suggest distinct pathogenic mechanisms, with important implications for diagnosis and genetic counselling.
F. Acquaviva, S. Troisi, G. Errichiello et al.
· Clinical Genetics · 0 citations