Heterozygous loss-of-function variants of LMX1B (MIM: 602575), a paralog of LMX1A, have been associated with nail–patella syndrome in human (NPS, MIM: 161200) (Dreyer et al. 1998; McIntosh et al. 1998; Vollrath et al. 1998). This evidence concerns the gene LMX1B and nail-patella syndrome.