TRNT1 deficiency: clinical, biochemical and molecular genetic features

Por Wedatilake, Yehani, Niazi, Rojeen, Fassone, Elisa, Powell, Christopher A., Pearce, Sarah, Plagnol, Vincent, Saldanha, José W., Kleta, Robert, Chong, W Kling, Footitt, Emma, Mills, Philippa B., Taanman, Jan-Willem, Minczuk, Michal, Clayton, Peter T., Rahman, Shamima
Publicado no Orphanet J Rare Dis (2016)