GeneticsJCI InsightPeer-reviewed
Precocious Chondrocyte Differentiation Disrupts Skeletal Growth in Kabuki Syndrome Mice
Jill A. Fahrner, Wan-Ying Lin, Ryan C. Riddle…·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.
41 citations