“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case

Figure 3

(a) Family pedigree. (b) DLX3 NM_005220 alignment on the Integrative Genomics Viewer (IGV, Broad Institute), reference genome hg19, after next-generation sequencing on a targeted panel for amelogenesis imperfecta. Upper tracks, patient I.1; middle tracks, patient II.1; and bottom tracks, patient I.2. Visualization of misalignments in orange versus pink are due to the heterozygous frameshift G > C at position 398 (direct lecture C > G on reverse strand).

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