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- W2371153224 abstract "Objective: To explore the genetic pathogeny by analyzing a child with dental dysplasia syndrome. Methods: The child with dental dysplasia syndrome was examined and analyzed carefully by clinical examination, pathological test, and genetic methods to get a clinical diagnosis and find candidate gene about this disease. Then gene mutation was screened by sequencing. Results: The patient were diagnosed as suffering from a complex illness with systemic symptom of hypohidrotic ectodermal dysplasia (HED), and teeth manifestations of dentinogenesis imperfecta(DGI) and short-root anomaly (SRA). Candidate genes EDA were picked up to analyze and screen mutations. The mutation type of causative EDA gene was 1231TC,L330P. Conclusion: This disease is regarded as a novel syndrome of dental dysplasia, and EDA mutation is genetic pathogeny of partial phenotypes." @default.
- W2371153224 created "2016-06-24" @default.
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- W2371153224 date "2008-01-01" @default.
- W2371153224 modified "2023-09-24" @default.
- W2371153224 title "Clinical, pathological, genetic evaluation of patient with dental dysplasia syndrome" @default.
- W2371153224 hasPublicationYear "2008" @default.
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