KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability
KCNA4 缺乏症会导致纹状体异常、先天性白内障和智力障碍等综合征。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2015-103637
Kaya, Namik; Alsagob, Maysoon; D'Adamo, Maria Cristina; Al-Bakheet, Albandary; Hasan, Sonia; Muccioli, Maria; Almutairi, Faten B; Almass, Rawan; Aldosary, Mazhor; Monies, Dorota; Mustafa, Osama M; Alyounes, Banan; Kenana, Rosan; Al-Zahrani, Jawaher; Naim, Eva; Binhumaid, Faisal S; Qari, Alya; Almutairi, Fatema; Meyer, Brian; Plageman, Timothy F; Pessia, Mauro; Colak, Dilek; Al-Owain, Mohammed
