Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript - Chen, Haizhu; Zheng, Ying; Wu, Hua; Cai, Naiqing; Xu, Guorong; Lin, Yi; Li, Jin-Jing (Frontiers in neurology, 2024)
Keywords: autosomal recessive primary microcephaly type 2; brain malformation; consanguineous marriage; epilepsy; microcephaly; Neurology; WDR62 mutation; epilepsy; microcephaly; WDR62 mutation; consanguineous marriage; brain malformation; autosomal recessive primary microcephaly type 2