Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families.

ABSTRACT:

Background

Dentinogenesis imperfecta (DI) is a rare debilitating hereditary disorder affecting dentin formation and causing loss of the overlying enamel. Clinically, DI sufferers have a discolored and weakened dentition with an increased risk of fracture. The aims of this study were to assess genotype-phenotype findings in three families with DI-II with special reference to mutations in the DSPP gene and clinical, histological, and imaging manifestations.

Methods

Nine patients participated in the study (two from family A, four from family B, and three from family C). Buccal swab samples were collected from all participants and extracted for genomic DNA. Clinical and radiographic examinations had been performed longitudinally, and the dental status was documented using photog

SUBMITTER: Taleb K 

PROVIDER: S-EPMC6014476 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature