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. 2019 Aug 11;7(9):e929. doi: 10.1002/mgg3.929

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© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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The AI family with compound heterozygous AMBN mutations. (a) Intraoral photos of the proband (III:1) at age 12 revealing dental attrition and extreme enamel hypoplasia in the secondary (permanent) dentition. No enamel is detected on the panoramic radiograph. (b) Intraoral images of proband at age 10 showing enamel hypoplasia and attrition in the primary dentition during the mixed dentition stage. (c) Pedigree of the AMBN AI family with five individuals recruited (asterisks). Only the proband was affected, which is consistent with a recessive pattern of inheritance. (d) Chromatography showing the AMBN compound heterozygous mutations: NG_042078.1:g.19190T>C; NM_016519.5:c.1061T>C; p.(Leu354Pro) and NG_042078.1:g.19469C>T; NM_016519.5:c.1340C>T; p.(Pro447Leu)