A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation

American Journal of Medical Genetics Part A,Volume 176, Issue 5, Page 1195-1199, May 2018.

Source: American Journal of Medical Genetics Part A - April 22, 2018 Category: Genetics & Stem Cells Authors: YukoAkutsu , KentaroShirai , AkiraTakei , YudaiGoto , TomohiroAoyama , AkimituWatanabe , MasatoshiImamura , TakashiEnokizono , TatsuyukiOhto , TetsuoHori , KeikoSuzuki , MasaharuHayashi , KoujiMasumoto , KenInoue Source Type: research