参考文献/References:
[1]Shireen RL,John FB.Genetic Disorders of the Extracellular Matrix[J].Anat Rec,2020,303(6):1527-1542.[2]de La Dure-Molla M,Philippe Fournier B,Berdal A.Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification[J].Eur J Hum Genet,2015,23(4):445-451.[3]Andersson K,Malmgren B,Astrom E,et al.Dentinogenesis imperfecta type II in Swedish children and adolescents[J].Orphanet J Rare Dis,2018,13(1):145.[4]Gulati N,Juneja S,Singh A,et al.A histological continuum between dentinogenesis imperfecta and dentin dysplasia[J].Indian Dent Res,2019,30(4):643-646.[5]Turkkahraman H,Galindo F,Tulu US,et al.A novel hypothesis based on clinical,radiological and histological data to explain the Dentinogenesis imperfecta type II phenotype[J].Connect Tissue Res,2020,61(6):526-536.[6]Li F,Liu Y,Liu HC,et al.Genetic variants analysis and histological observation of teeth in a patient with hereditary opalescent dentin[J].J Peking Univ,2018,50(4):666-671.[7]Pontaveetus T,Osathanon T,Nowwarote N,et al.Dental properties,ultrastructure,and pulp cells associated with a noval DSPP mutation[J].Oral Dis,2018,24(4):619-627.[8]Rithie H.The functional significance of dentin sialoprotein-phosphophoryn and dentin sialoprotein[J].Int J Oral Sci,2018,10(4):31.[9]Liang T,Zhang H,Xu Q,et al.Mutant Dentin Sialophosphoprotein Causes Dentinogenesis Imperfecta[J].J Dent Res,2019,98(8):912-919.[10]Sun Y,Lu Y,Chen S,et al.Key Proteolytic Cleavage Site and Full-length Form of DSPP[J].J Dent Res,2018,89(5):498-503.[11]Yasuo Y,James PS.Structural features,processing mechanism and gene splice variants of dentin sialophosphoprotein [J].Jpn Dent Sci Rev,2018,54(4):183-196.[12]Jing Z,Chen Z,Jiang Y.Effects of DSPP Gene Mutations on Periodontal Tissues[J].Glob Med Genet,2021,8(3):90-94.[13]Kostas V,Heather SR,Yang X,et al.Accelerated enamel mineralization in DSPP mutant mice[J].Matrix Biol,2016,53(1):246-259.[14]Porntaveetus T,Nowwarote N,Osathanon T,et al.Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation[J].Clin Oral Invest,2019,23(2):303-313.[15]Li F,Liu Y,Liu H,et al.Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia[J].Oral Dis,2017,23(3):360-366. [16]Kawther T,Eva L,Jette DJ,et al.Dentinogenesis imperfecta type II-genotype and phenotype analyses in three Danish families[J].Mol Genet Genomic Med,2018,6(2):339-349.[17]Song Y,Wang C,Fan M,et al.Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population[J].J Med Genet,2018,45(7):457-464.[18]Nieminen P,Papagiannoulis-Lascaridees L,Waltimo-Siren J,et al.Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location[J].J Bone Miner Res,2017,26(4):873-880.[19]Jie Y,Kazuhiko K,Moses L,et al.The dentin phosphoprotein repeat region and inherited defects of dentin[J].Mol Genet Genomic Med,2016,4(1):28-38.[20]Agnes BZ,Mathilde H,Corinne S,et al.Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar[J].Front Physiol,2016,7(6):526-535.[21]Ji WL,Jiwon H,Figen S,et al.Novel frameshift mutations in DSPP cause dentin dysplasia type II[J].Oral Dis,2019,25(8):2044-2046.[22]杨梅,贾杰,宋亚玲.牙本质发育不全表型分析及突变筛查[J].口腔生物医学,2017,8(1):11-15.[23]傅松滨.医学遗传学[M].第4版.北京:北京大学医学出版社,2018:24-26.