Heterozygous mutations of SHOX and/or its regulatory elements are detected in approximately 70% of LWD patients and involve 70–80% large deletions, 2–6% partial deletions, 20–25% point mutations (Benito-Sanz et al., 2005; Benito-Sanz et al., 2006; Benito-Sanz et al., 2011; Binder, 2011; Caliebe et al., 2012). The gene discussed is SHOX; the disease is Leri-Weill dyschondrosteosis.