Khan et al., 2012, identified mutations (c.178C>T (p.R60W), c.353G>A (p.C118Y), and c.3G>A (p.M1I)) within chromosome 20p13 at Rspo4 locus after genotyping three anonychia/hyponychia Pakistani families using microsatellite markers. The gene discussed is RSPO4; the disease is Anonychia.