Precocious Chondrocyte Differentiation Disrupts Skeletal Growth in Kabuki Syndrome Mice
Jill A. Fahrner, Wan-Ying Lin, Ryan C. Riddle, Leandros Boukas, Valerie B. DeLeon, Sheetal Chopra, Susan E. Lad, Teresa Romeo Luperchio, Kasper D. Hansen, Hans Tomas Bjornsson
This study identifies disrupted endochondral ossification in Kabuki syndrome mice due to precocious chondrocyte differentiation, linking KMT2D dysfunction to altered Shox2 expression and growth retardation.
JCI Insight · Sep 26, 2019Peer-reviewedGenetics