[Clinical and genetic analysis of a pedigree affected with hereditary dentinogenesis imperfecta type II].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2022）
Abstract
The c.2837delA variant of the DSPP gene probably underlay the disease in this pedigree. Above finding has expanded the variant spectrum of DSPP gene and provided a basis for molecular diagnosis and genetic counseling for this pedigree.
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Key words
Dentinogenesis imperfecta,DSPP gene,Frameshift variant,Whole exome sequencing
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