Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
新型功能缺失变异体扩展了ABCC9相关的智力障碍和肌病综合征
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awae010
Efthymiou, Stephanie; Scala, Marcello; Nagaraj, Vini; Ochenkowska, Katarzyna; Komdeur, Fenne L; Liang, Robin A; Abdel-Hamid, Mohamed S; Sultan, Tipu; Barøy, Tuva; Van Ghelue, Marijke; Vona, Barbara; Maroofian, Reza; Zafar, Faisal; Alkuraya, Fowzan S; Zaki, Maha S; Severino, Mariasavina; Duru, Kingsley C; Tryon, Robert C; Brauteset, Lin Vigdis; Ansari, Morad; Hamilton, Mark; van Haelst, Mieke M; van Haaften, Gijs; Zara, Federico; Houlden, Henry; Samarut, Éric; Nichols, Colin G; Smeland, Marie F; McClenaghan, Conor
