Biblio
Biallelic pathogenic variants in alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report. Front Neurol. 2023;14:1254140.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in , and . J Med Genet. 2023.
Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development. Front Neurosci. 2023;17:1167047.
. Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management. Eur J Paediatr Neurol. 2024;49:141-154.