Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
Nature Communications
Klammt, Jürgen J; Neumann, David D; Gevers, Evelien F EF; Andrew, Shayne F SF; Schwartz, I David ID; Rockstroh, Denise D; Colombo, Roberto R; Sanchez, Marco A MA; Vokurkova, Doris D; Kowalczyk, Julia J; Metherell, Louise A LA; Rosenfeld, Ron G RG; Pfäffle, Roland R; Dattani, Mehul T MT; Dauber, Andrew A; Hwa, Vivian V
Publication Date: 2018-05-29
Variant appearance in text: JAK2: 2374C>T; Pro792Ser