Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

2017
https://researcherprofiles.org/profile/1211899
28687524
Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M