Case report
Open access
Aug 2026
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.
The father-to-daughter transmission of a novel constitutional TUBB variant, alongside literature review of constitutional and mosaic tubulinopathies, suggest that pathogenic germline TUBB variants can occasionally be inherited.
E. Cellini, D. Mei, Mara Cavallin et al.
· American Journal of Medical... · 0 citations