In 2008, Bongers et al. [25] identified three different deletions in a series of eight unrelated families with classical features of NPS in whom no pathogenic LMX1B mutation was found by sequence analysis, as shown in Figure 4B, a deletion of exons 3–8 of LMX1B was found in family C, Further determination of the size of the genomic microdeletions revealed a deletion of the whole LMX1B gene in family A, whereas a deletion of the entire LMX1B and flanking FAM125B and ZNF297B genes was shown in family B which was similar to that of our patients [25]. This evidence concerns the gene ZBTB43 and nail-patella syndrome.