Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?

Neurol Genet. 2019 Mar 25;5(2):e319. doi: 10.1212/NXG.0000000000000319. eCollection 2019 Apr.

¹ Department of Pediatrics (Y.N., K. Hirohata, R.I., A.O.), Graduate School of Medicine, The University of Tokyo; Department of Human Genetics (K. Hamanaka, S.M., N.M.), Graduate School of Medicine, Yokohama City University; Department of Pediatrics (M.M.), School of Medicine, Teikyo University, Tokyo; and Department of Pediatrics (H.S.), Graduate School of Medicine, Osaka City University, Osaka, Japan.

No abstract available