Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
双等位基因TEDC1变异会导致一种新的综合征,其特征是严重的生长发育障碍和内分泌并发症。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01802-3
Miyake, Noriko; Shiga, Kentaro; Hasegawa, Yuya; Iwabuchi, Chisato; Shiroshita, Kohei; Kobayashi, Hiroshi; Takubo, Keiyo; Velilla, Fabien; Maeno, Akiteru; Kawasaki, Toshihiro; Imai, Yukiko; Sakai, Noriyoshi; Hirose, Tomonori; Fujita, Atsushi; Takahashi, Hidehisa; Okamoto, Nobuhiko; Enokizono, Mikako; Iwasaki, Shiho; Ito, Shuichi; Matsumoto, Naomichi