Detalhe da pesquisa
1.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
J Med Genet
; 60(10): 1026-1034, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197783
2.
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Neurol Genet
; 6(3): e425, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32582862