RECQL4 and Rothmund-Thomson syndrome: Subsequently, mutations in the RECQ4 gene have been linked to the pathogenesis of three clinical diseases, which are Rothmund-Thomson syndrome (RTS), Baller-Gerold syndrome (BGS), and RAdial ray malformations, PAtellae hypo/aplasia and cleft or highly arched palate, DIarrhea and dislocated joints, LIttle size and limb malformation, NOse slender and normal intelligence (RAPADILINO) (Kitao et al., 1999a; Larizza et al., 2006; Siitonen et al., 2009).