Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1
Slavotinek, Anne, Pua, Heather, Hodoglugil, Ugur, Abadie, Jude, Shieh, Joseph, Van Ziffle, Jessica, Kvale, Mark, Lee, Hane, Kwok, Pui-Yan, Risch, Neil, Sabbadini, MartaLanguage:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2017.07.003
Date:
July, 2017
File:
PDF, 524 KB
english, 2017