Kaya N, Alsagob M, D'Adamo MC, Al-Bakheet A, Hasan S, Muccioli M, Almutairi FB, Almass R, Aldosary M, Monies D, Mustafa OM, Alyounes B, Kenana R, Al-Zahrani J, Naim E, Binhumaid FS, Qari A, Almutairi F, Meyer B, Plageman TF, Pessia M, Colak D, Al-Owain M

KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.

J Med Genet 53:786-792 (2016)
DOI:10.1136/jmedgenet-2015-103637