De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome
破坏 ATN1 HX 重复基序的新生变异会导致一种可识别的非进行性神经认知综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.03.016
Palmer, Elizabeth E; Hong, Seungbeom; Al Zahrani, Fatema; Hashem, Mais O; Aleisa, Fajr A; Jalal Ahmed, Heba M; Kandula, Tejaswi; Macintosh, Rebecca; Minoche, Andre E; Puttick, Clare; Gayevskiy, Velimir; Drew, Alexander P; Cowley, Mark J; Dinger, Marcel; Rosenfeld, Jill A; Xiao, Rui; Cho, Megan T; Yakubu, Suliat F; Henderson, Lindsay B; Guillen Sacoto, Maria J; Begtrup, Amber; Hamad, Muddathir; Shinawi, Marwan; Andrews, Marisa V; Jones, Marilyn C; Lindstrom, Kristin; Bristol, Ruth E; Kayani, Saima; Snyder, Molly; Villanueva, Marıá Mercedes; Schteinschnaider, Angeles; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Roscioli, Tony; Kirk, Edwin P; Bye, Ann; Merzaban, Jasmeen; Jaremko, Łukasz; Jaremko, Mariusz; Sachdev, Rani K; Alkuraya, Fowzan S; Arold, Stefan T