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Figure 1. The Japanese X-linked AI family included in this study. (A) Pedigree of the family. The arrow indicates the proband. (B) The III-6 family member. His teeth showed generalized thin enamel, resulting in small tooth size, widened inter-dental spacing, brownish color, and generally hypoplastic appearance. (C) The IV-1 proband. Her teeth showed hypoplasia in the form of distinct vertical ridges. (D-F) Sequencing results of the amelogenin gene from the family members. Results of mutation detection in the members [III-7 (D), III-6 (E), and IV-1 (F)] are shown. The mutation detected is indicated by an asterisk (*).
