TRNT1 deficiency: clinical, biochemical and molecular genetic features

• Yehani Wedatilake, Rojeen Niazi, Elisa Fassone, Christopher A. Powell, Sarah Pearce, Vincent Plagnol, José W. Saldanha, Robert Kleta, W Kling Chong, Emma Footitt, Philippa B. Mills, Jan-Willem Taanman, Michal Minczuk, Peter T. Clayton, Shamima Rahman

• Orphanet Journal of Rare Diseases, July 2016, Springer Science + Business Media
• DOI: 10.1186/s13023-016-0477-0