A novel mutation causing amelogenesis imperfecta and its expression in human dental tissues.

Journal: Journal of dental sciences
Published Date: Sep 28, 2023

Abstract

BACKGROUND/PURPOSE: Amelogenesis imperfecta (AI), an assemblage of genetic diseases with dental enamel malformations, is generally grouped into hypoplastic, hypomaturation, and hypocalcified types. This study aimed to identify the genetic etiology for a consanguineous Iranian family with autosomal recessive hypocalcified AI.

Authors

  • Shih-Kai Wang
    Department of Dentistry, National Taiwan University School of Dentistry, Taipei, Taiwan.
  • Zhe-Hao Lee
    Department of Dentistry, National Taiwan University School of Dentistry, Taipei, Taiwan.
  • Parissa Aref
    Department of Pediatric Dentistry, Islamic Azad University Dental Branch of Tehran, Tehran, Iran.
  • Kuan-Yu Chu
    Department of Pediatric Dentistry, National Taiwan University Children's Hospital, Taipei, Taiwan.

Keywords

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