Open access
Sep 2026
A patient-derived LMX1B variant causes tissue-specific manifestations of nail-patella syndrome in mice
The findings show that the effects of an LMX1B variant cannot be predicted from its residual activity alone, and the susceptibility of each organ may depend on the cellular and genetic context in which the variant acts.
T. Amano, Keisuke Yoshida, F. Sultana et al.
· bioRxiv · 0 citations