Fig. 2

Targeted next-generation sequencing results (a). Pathogenic single-nucleotide variants in the EFNB1 gene were visualized using Integrative Genomics Viewer (IGV)—c.35G>A p.(Trp12*) in patient 1 and c.628G>T p.(Glu210*) in patient 5. Targeted Sanger sequencing of the EFNB1 gene results (b). Pathogenic single-nucleotide variants in the EFNB1 gene were visualized using BioEdit tool—c.191G>T p.(Cys64Phe) in patient 2, c.216del p.(Tyr73Metfs*86) in patient 3, c.451G>A p.(Gly151Ser) in patient 4 and c.628G>T p.(Glu210*) in patient 6