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Identification of DSPP novel variants and phenotype analysis in dentinogenesis dysplasia Shields type II patients.

Clinical oral investigations - 1 Jul 2023

Du Qin, Cao Li, Yan Nana, Kang Sujun, Lin Mu, Cao Peilin, Jia Ran, Wang Chenyang, Qi Hanyu, Yu Yue, Zou Jing, Yang Jiyun

Abstract excerpt

OBJECTIVES: To investigate the genetic causes and teeth characteristics of dentin dysplasia Shields type II(DD-II) in three Chinese families. MATERIALS AND METHODS: Data from three Chinese families affected with DD-II were collected. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were conducted to screen for variations, and Sanger sequencing was used to verify mutation sites. The physical and...

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PMID: 37017752
DOI: 10.1007/s00784-023-05009-y

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