Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
Seyama R, Uchiyama Y, Kaneshi Y, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, et al. J Hum Genet. 2023 May; 68(5):363-367. Epub 2023 Jan 12.