Wedatilake, Y; Niazi, R; Fassone, E; Powell, CA; Pearce, S; Plagnol, V; Saldanha, JW; ... Rahman, S; + view all Wedatilake, Y; Niazi, R; Fassone, E; Powell, CA; Pearce, S; Plagnol, V; Saldanha, JW; Kleta, R; Chong, WK; Footitt, E; Mills, PB; Taanman, JW; Minczuk, M; Clayton, PT; Rahman, S; - view fewer (2016) TRNT1 deficiency: clinical, biochemical and molecular genetic features. Orphanet Journal of Rare Diseases , 11 (90) pp. 1-14. 10.1186/s13023-016-0477-0.