학술논문
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
Document Type
Article
Author
Mirchi, A.; Tran, L.T.; Brais, B.; Bernard, G.; Guay, S.-P.; De Bie, I.; Wolf, N.I.; Vanderver, A.; Sylvain, M.; Pohl, D.; Rossignol, E.; Saito, M.; Moutton, S.; González-Gutiérrez-Solana, L.; Thiffault, I.; Kruer, M.C.; Moron, D.G.; Kauffman, M.; Goizet, C.; Sztriha, L.; Glamuzina, E.; Melançon, S.B.; Naidu, S.; Retrouvey, J.-M.; Lacombe, S.; Bernardino-Cuesta, B.
Source
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 October 2023, 60(10):1026-1034)
Subject
Language
English
ISSN
14686244
00222593
00222593