Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
Jang MA, Kim EK, Now H, Nguyen NT, Kim WJ, Yoo JY, Lee J, Jeong YM, Kim CH, Kim OH, Sohn S, Nam SH, Hong Y, Lee YS, Chang SA, Jang SY, Kim JW, Lee MS, Lim SY, Sung KS, Park KT, Kim BJ, Lee JH, Kim DK, Kee C, Ki CS.
Jang MA, et al. Among authors: kim wj, kim ch, kim ek, kim dk, kim bj, kim oh, kim jw.
Am J Hum Genet. 2015 Feb 5;96(2):266-74. doi: 10.1016/j.ajhg.2014.11.019. Epub 2015 Jan 22.
Am J Hum Genet. 2015.
PMID: 25620203
Free PMC article.