Identification of DSPP novel variants and phenotype analysis in dentinogenesis dysplasia Shields type II patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Dentistry
Link
https://link.springer.com/content/pdf/10.1007/s00784-023-05009-y.pdf
Reference43 articles.
1. Shields ED, Bixler D, El-Kafrawy AM (1973) A proposed classification for heritable human dentine defects with a description of a new entity. Arch Oral Biol 18(4):543–IN7. https://doi.org/10.1016/0003-9969(73)90075-7
2. Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L (2001) Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nature gen 27(2):201–204
3. Zhang X, Zhao J, Li C, Gao S, Qiu C, Liu P, Wu G, Qiang B, Lo WH, Shen Y (2001) DSPP mutation in dentinogenesis imperfecta Shields type II. Nature gen 27:151–152. https://doi.org/10.1038/84765
4. DA MK, Suzanne Hart P, Hart TC, Hartsfield JK, Wilson A, Wright JT, Fisher LW (2008) A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. Hum Mutat 29(12):1392–1404. https://doi.org/10.1002/humu.20783
5. Rajpar MH, Koch MJ, Davies RM, Mellody KT, Kielty CM, Dixon MJ (2002) Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. Hum Mol Genet 11(21):2559–2565. https://doi.org/10.1093/hmg/11.21.2559
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1. Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling;Clinical Oral Investigations;2024-04-17
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