A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N.
Saitsu H, et al. Among authors: kobayashi y.
J Hum Genet. 2014 Oct;59(10):581-3. doi: 10.1038/jhg.2014.71. Epub 2014 Aug 7.
J Hum Genet. 2014.
PMID: 25102098