Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
双等位基因IARS突变会导致产前发病的生长迟缓、智力障碍、肌张力低下和婴儿肝病。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.05.027
Kopajtich, Robert; Murayama, Kei; Janecke, Andreas R; Haack, Tobias B; Breuer, Maximilian; Knisely, A S; Harting, Inga; Ohashi, Toya; Okazaki, Yasushi; Watanabe, Daisaku; Tokuzawa, Yoshimi; Kotzaeridou, Urania; Kölker, Stefan; Sauer, Sven; Carl, Matthias; Straub, Simon; Entenmann, Andreas; Gizewski, Elke; Feichtinger, René G; Mayr, Johannes A; Lackner, Karoline; Strom, Tim M; Meitinger, Thomas; Müller, Thomas; Ohtake, Akira; Hoffmann, Georg F; Prokisch, Holger; Staufner, Christian
