Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
由POLR3A、POLR3B和POLR1C基因双等位基因变异引起的POLR3相关脑白质营养不良的颅面特征
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2023-109223
Mirchi, Amytice; Guay, Simon-Pierre; Tran, Luan T; Wolf, Nicole I; Vanderver, Adeline; Brais, Bernard; Sylvain, Michel; Pohl, Daniela; Rossignol, Elsa; Saito, Michael; Moutton, Sebastien; González-Gutiérrez-Solana, Luis; Thiffault, Isabelle; Kruer, Michael C; Moron, Dolores Gonzales; Kauffman, Marcelo; Goizet, Cyril; Sztriha, László; Glamuzina, Emma; Melançon, Serge B; Naidu, Sakkubai; Retrouvey, Jean-Marc; Lacombe, Suzanne; Bernardino-Cuesta, Beatriz; De Bie, Isabelle; Bernard, Geneviève