A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.

por Laurie H Seaver, Xue-Ying He, Keith Abe, Tina Cowan, Gregory M Enns, Lawrence Sweetman, Manfred Philipp, Sansan Lee, Mazhar Malik, Song-Yu Yang
Publicado 2011