WDR11 and cartilage-hair hypoplasia: Five different missense heterozygous variants in the WDR11 gene (NM_172255.3: c.1343G>A, p.R448Q; c.1303G>A, p.A435T; c.2070T>A, p.H690Q; c.1183C>T, p.R395W; c.3450T>G, p.F1150L) were first identified in seven patients from a cohort of CHH families in 2010 [53].