Mutations in RECQL4 are associated with three rare autosomal-recessive disorders: Rothmund–Thomson syndrome (RTS; OMIM #268400), RAPADILINO (RAPA; OMIM #266280), and Baller–Gerold syndrome (BGS; OMIM #218600) (Siitonen et al., 2009; Larizza et al., 2010, 2013). This evidence concerns the gene TRERF1 and Baller-Gerold syndrome.