Like ARSE, SHOX genes are involved in skeletal development: mutations and deletions in SHOX lead to Leri-Weill dyschondrosteosis [38,39] and non-syndromic idiopathic short stature [40,41], and deletions cause the short stature phenotype seen in Turner syndrome [41,42]. Here, ARSL is linked to Leri-Weill dyschondrosteosis.