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, Gartner J, Imamoto N, Elpeleg O. Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene. J Med Genet. 2016 Feb;53(2):132-7.