| 1 | IDSSA, WIPI2 |
| Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course. . 2021 PMID: | |
| Maroofian R, Gubas A, Kaiyrzhanov R, Scala M, Hundallah K, Severino M, Abdel-Hamid MS, Rosenfeld JA, Ebrahimi-Fakhari D, Ali Z, Rahim F, Houlden H, Tooze SA, Alsaleh NS, Zaki MS. | |
| Brain Commun Sep 3;3(3):fcab183. doi: 10.1093/braincomms/fcab183. 2021 | |
| 2 | IDSSA, WIPI2 |
| A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities | |
| Jelani M, Dooley HC, Gubas A, Mohamoud HSA, Khan MTM, Ali Z, Kang C, Rahim F, Jan A, Vadgama N, Khan MI, Al-Aama JY, Khan A, Tooze SA, Nasir J. | |
| Brain. May 1;142(5):1242-1254. doi: 10.1093/brain/awz075. 2019 | |