RECQL4 and Roberts-SC phocomelia syndrome: The clinical overlap of BGS, a RECQL4-associated disease, and RBS cohesinopathy is accounted for by the interconnected pathways of the respective genes, as evidenced by the inclusion of RECQL4 among the accessory proteins acting in the cohesin pathway (40) and by downregulation of RECQL4 in Cornelia de Lange (OMIM#122470) patients (41).