A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.
暂无分享,去创建一个
A. Munnich | R. Nabbout | C. Barnérias | I. Desguerre | A. Rotig | L. Colleaux | M. Rio | G. Barcia | K. Siquier-Pernet | C. Barnerias