Benito-Sanz et al. (2012) identified a 47-kb deletion downstream of SHOX as the disease-causing allele in Léri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) patients. Chen et al. (2009) also reported that microdeletions located 250 kb downstream of this gene can lead to short stature. The gene discussed is SHOX; the disease is Leri-Weill dyschondrosteosis.