EFNB1 and craniofrontonasal syndrome: Lastly, we have expanded the EFNB1 gene mutational spectrum as we described three additional novel variants located in the EFNB1 gene—p.(Trp12*), p.(Tyr73Metfs*86), p.(Glu210*) and consequently increased the total number of CFNS-associated pathogenic variants to 123.