Yuko Akutsu, Kentaro Shirai, Akira Takei, Yudai Goto, Tomohiro Aoyama, Akimitu Watanabe, Masatoshi Imamura, Takashi Enokizono, Tatsuyuki Ohto, Tetsuo Hori, et al. 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. 2018. 176. 5. 1195-1199
Takashi Enokizono, Tatsuyuki Ohto, Ryuta Tanaka, Mai Tanaka, Hisato Suzuki, Aiko Sakai, Kazuo Imagawa, Hiroko Fukushima, Atsushi Iwabuti, Takashi Fukushima, et al. Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017. 173. 10. 2821-2825