Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.
Virgilio E, Tielens S, Bonfield G, Nian FS, Sawatani T, Vinci C, Govier M, Montaser H, Lartigue R, Arunagiri A, Liboz A, Da Silva FN, Lytrivi M, Papadopoulou T, Wakeling MN, Russ-Silsby J, Bowman P, Johnson MB, Laver TW, Piron A, Yi X, Fantuzzi F, Hendrickx S, Igoillo-Esteve M, Santacreu BJ, Suntharesan J, Ghildiyal R, Hegde D, Shah N, Acar S, Dönmez BÖ, Özkan B, Mohsin F, Talaat IM, Abbas MT, Abbas OT, Alghamdi HA, Kandemir N, Flanagan SE, Scharfmann R, Arvan P, Raoux M, Nguyen L, Hattersley AT, Cnop M, De Franco E.
Virgilio E, et al. Among authors: mohsin f.
J Clin Invest. 2025 Sep 9;135(22):e195756. doi: 10.1172/JCI195756. eCollection 2025 Nov 17.
J Clin Invest. 2025.
PMID: 40924476
Free PMC article.