| 1 | HIKESHI, HLD13 |
| Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy. | |
| Vasilescu C, Isohanni P, Palomäki M, Pihko H, Suomalainen A, Carroll CJ. | |
| Eur J Hum Genet 25(3):366-370. doi: 10.1038/ejhg.2016.189. Epub 2016 Dec 21. 2017 | |
| 2 | HIKESHI, HLD13 |
| Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene. | |
| Edvardson S, Kose S, Jalas C, Fattal-Valevski A, Watanabe A, Ogawa Y, Mamada H, Fedick AM, Ben-Shachar S, Treff NR, Shaag A, Bale S, Gärtner J, Imamoto N, Elpeleg O. | |
| J Med Genet 53(2):132-7. doi: 10.1136/jmedgenet-2015-103232. Epub 2015 Nov 6. 2016 | |