A novel homozygous variant in the POLR1A gene: a complicated hereditary spastic paraplegia (c-HSP) or a hypomyelinating leukodystrophy type-27 (HLD27) phenotype?
Tajamolian M, Ravanbod M, Alavi S, Heidari M, Rohani M, Alavi A
Neurol Sci. 2026 Jun 11; 47(7). PMID: 42271096.Abstract