Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation

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
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:International Dental Journal
Subjects:
Amelogenesis imperfecta
Dentin mineralization
Enamel mineralization
Peroxisomes
Peroxisomal dysfunction
Deafness
Online Access:http://www.sciencedirect.com/science/article/pii/S0020653925001108
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http://www.sciencedirect.com/science/article/pii/S0020653925001108

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