Open access
Sep 2026
A patient-derived LMX1B variant causes tissue-specific manifestations of nail-patella syndrome in mice
Nail-patella syndrome (NPS) is a multisystem disorder caused by pathogenic variants in LMX1B and is characterized by dysplasia of the nails and patellae as well as extraskeletal complications such as progressive nephropathy and glaucoma. We generated a CRISPR/Cas9 knock-in mouse carrying the R252Q substitution, corresp...
T. Amano, Keisuke Yoshida, F. Sultana et al.
· bioRxiv · 0 citations