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T1  - Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families 
SN  -  /  
UR  - http://hdl.handle.net/10138/303663 
T3  -  
A1  - Taleb, Kawther; Lauridsen, Eva; Daugaard-Jensen, Jette; Nieminen, Pekka; Kreiborg, Sven 
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PB  -  
Y1  - 2018 
LA  - eng 
AB  - BackgroundDentinogenesis 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. MethodsNine patients participated in the ... 
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KW  - bioinformatics; dentinogenesis imperfecta; genetics; DSPP MUTATION; DENTIN DYSPLASIA; CHINESE FAMILY; DEFECTS; GENE; MINERALIZATION; IDENTIFICATION; PHOSPHOPROTEIN; DISORDERS; TEETH; 3111 Biomedicine; 1184 Genetics, developmental biology, physiology; 313 Dentistry 
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