Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

per Miyake, Noriko, Fukai, Ryoko, Ohba, Chihiro, Chihara, Takahiro, Miura, Masayuki, Shimizu, Hiroshi, Kakita, Akiyoshi, Imagawa, Eri, Shiina, Masaaki, Ogata, Kazuhiro, Okuno-Yuguchi, Jiu, Fueki, Noboru, Ogiso, Yoshifumi, Suzumura, Hiroshi, Watabe, Yoshiyuki, Imataka, George, Leong, Huey Yin, Fattal-Valevski, Aviva, Kramer, Uri, Miyatake, Satoko, Kato, Mitsuhiro, Okamoto, Nobuhiko, Sato, Yoshinori, Mitsuhashi, Satomi, Nishino, Ichizo, Kaneko, Naofumi, Nishiyama, Akira, Tamura, Tomohiko, Mizuguchi, Takeshi, Nakashima, Mitsuko, Tanaka, Fumiaki, Saitsu, Hirotomo, Matsumoto, Naomichi
Publicat a Am J Hum Genet (2016)