Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
人类APC2基因(编码腺瘤性息肉病蛋白2)的双等位基因缺失会导致无脑回畸形、皮质下异位症和全面发育迟缓。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.08.013
Lee, Sangmoon; Chen, Dillon Y; Zaki, Maha S; Maroofian, Reza; Houlden, Henry; Di Donato, Nataliya; Abdin, Dalia; Morsy, Heba; Mirzaa, Ghayda M; Dobyns, William B; McEvoy-Venneri, Jennifer; Stanley, Valentina; James, Kiely N; Mancini, Grazia M S; Schot, Rachel; Kalayci, Tugba; Altunoglu, Umut; Karimiani, Ehsan Ghayoor; Brick, Lauren; Kozenko, Mariya; Jamshidi, Yalda; Manzini, M Chiara; Beiraghi Toosi, Mehran; Gleeson, Joseph G