Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia
ESRRG基因变异与一种显性遗传的非进行性先天性运动障碍伴共济失调有关。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.10.015
Bresack, Brandon; Kohl, Laura Renée; Afenjar, Alexandra; Audic, Frédérique; Burglen, Lydie; Charles, Perrine; Dundar, Nihal Olgac; van de Kamp, Jiddeke; Machol, Keren; Magoulas, Pilar; Goze-Martineau, Odile; Motazacker, Mahdi; Philippi, Heike; Reyes, Alejandra; Tutakhel, Omar A Z; Bertoli-Avella, Aida; Sticht, Heinrich; Abou Jamra, Rami; Oppermann, Henry