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. 2019 Feb 19;98(5):541–548. doi: 10.1177/0022034518824571

Figure 5.

Figure 5.

Family 6. (A) Pedigree of family 6. Seven asterisks (*) identify family members recruited for this study. (B) Clinical photos of the first proband (III:1) at age 6 y show generalized hypomaturation amelogenesis imperfecta. (C) Clinical photos of the second proband (III:2) at age 5 y. (D) Chromatogram of proband III:1 that identifies a homozygous AT deletion (c._1467_1468/p.Val491Aspfs*8) in WDR72 (left). The resulting frameshift would add DLVGYLY* after Cys490. The father (II:10), grandmother (II:9), and unaffected sibling (III:3) were heterozygous for AT deletion and had normal enamel (not shown).