Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation
ABSTRACT: Biallelic variants in the PEX1 and PEX6 genes are implicated in Heimler syndrome, which is characterized by amelogenesis imperfecta, sensorineural hearing loss, retinitis pigmentosa, and nail defects. The objective of this study is to find the genetic variant and to analyze the teeth of a...
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| Main Authors: | Piranit N. Kantaputra, Atitaya Apivatthakakul, Massupa Kaewgahya, Sissades Tongsima, Chumpol Ngamphiw, Thanapat Sastraruji, Panwarit Sukantamala, Bruce M. Carlson, Katsushige Kawasaki, James R. Ketudat Cairns, Nuntigar Sonsuwan, Atsushi Ohazama |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-08-01
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| Series: | International Dental Journal |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0020653925001108 |
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