A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma

by Kohei Muto, Ryosuke Miyamoto, Yuka Terasawa, Yoshimitsu Shimatani, Keijiro Hara, Takumi Kakimoto, Tatsuya Fukumoto, Yusuke Osaki, Koji Fujita, Masafumi Harada, Hisanori Uehara, Yasushi Takagi, Yuishin Izumi
Published 2021-05-01

Germline deletion of chromosome 2p16-21 associated with Lynch syndrome

by Soichiro Natsume, Tatsuro Yamaguchi, Hidetaka Eguchi, Yasushi Okazaki, Shin-ichiro Horiguchi, Hideyuki Ishida
Published 2021-05-01

Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia

by Junya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, Hiroki Goto, Atsuo Nakayama, Takeshi Nishiyama, Katsu Takahashi, Masatoshi Sana, Akiko Ota, Junichiro Machida, Toru Nagao, Yoshihito Tokita
Published 2021-07-01

A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site

by Ashkan Habib, Alireza Shojazadeh, Mohadeseh Molayemat, Hossein Jafari Khamirani, Sina Zoghi, Seyed Alireza Dastgheib, Asadollah Habib
Published 2021-07-01

A novel LRP6 variant in a Japanese family with oligodontia

by Hiroki Goto, Masashi Kimura, Junichiro Machida, Akiko Ota, Mitsuko Nakashima, Naomi Tsuchida, Junya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, Katsu Takahashi, Masatoshi Sana, Atsuo Nakayama, Shintaro Suzuki, Toru Nagao, Naomichi Matsumoto, Yoshihito Tokita
Published 2021-07-01

Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH

by Rina Hama, Jun Kido, Keishin Sugawara, Toshiro Nakamura, Kimitoshi Nakamura
Published 2021-07-01