*Miyake N, Shiga K, Hasegawa Y, Iwabuchi C, Shiroshita K, Kobayashi H, Takubo K, Velilla F, Maeno A, Kawasaki T, Imai Y, Sakai N, Hirose T, Fujita A, Takahashi H, Okamoto N, Enokizono M, Iwasaki S, Ito S, *Matsumoto N. Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications.
