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Journal of Dental Research
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DLX3 Mutation in a New Family and Its Phenotypic Variations

S.-K. Lee1,2, Z.H. Lee1, S.-J. Lee3, B.-D. Ahn3, Y.-J. Kim3, S.-H. Lee3 and J.-W. Kim1,2,3,*

1 Department of Cell and Developmental Biology & Dental Research Institute,
2 Dental Genetics Laboratory, and
3 Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea


Figure 1
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  		Figure 1. Pedigree and mutational analyses of the kindred. (A) Pedigree of the kindred with the (g.3179_3180delCT) DLX3 mutation. (B) DNA sequencing chromatogram of the normal individual III:2. (C) DNA sequencing chromatogram of the affected individual III:6.

 

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  		Figure 2. Clinical photographs and radiographs of proband (III:6) at age 12. (A) Frontal view. Slightly deep overbite with interdental spacing in the dentition can be seen. Enamel was hypoplastic and hypomature with brown discoloration. (B) Maxillary occlusal view. Excessive wear and pulp exposures can be seen. (C) Mandibular occlusal view. (D) Panoramic radiograph. Teeth have thin enamel with reduced radiopacity in general. No characteristic taurodontic feature can be identified in the molar teeth. (E) Intra-oral radiograph of maxillary incisors. Maxillary central incisors had an extension of the pulp chamber with a slightly slender root. (F) Cephalometric radiograph. No bone-related abnormality was identified.

 

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  		Figure 3. Panoramic, cephalometric, and hand-wrist radiographs of the affected individual (II:9) at age 44. (A) Panoramic radiograph. Teeth have generalized thin enamel with reduced radiopacity. No characteristic taurodontic features can be identified among the remaining teeth. (B) Cephalometric radiograph. No bone-related abnormality was identified. (C) Hand-wrist radiograph. No increased bone density or sclerotic changes in the radius or ulna were identified.

 

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  		Figure 4. Panoramic, cephalometric, and hand-wrist radiographs of the affected individual (II:3) at age 51. (A) Panoramic radiograph. Teeth were extensively restored. No characteristic taurodontic features can be identified among the remaining teeth. (B) Cephalometric radiograph. No bone-related abnormality was identified. (C) Hand-wrist radiograph. No increased bone density or sclerotic changes in the radius or ulna were identified.

 

Journal of Dental Research, Vol. 87, No. 4, 354-357 (2008)
DOI: 10.1177/154405910808700402
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