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Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI without Skeletal Abnormalities

Inherited dentin defects are classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). The genetic etiology of DD-I is unknown. Defects in dentin sialophosphoprotein (DSPP) cause DD type II and DGI types II and III. DGI type I is the oral manifestation of...

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Detalles Bibliográficos
Autores principales: Wang, Shih-Kai, Chan, Hui-Chen, Makovey, Igor, Simmer, James P., Hu, Jan C-C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3515487/
https://www.ncbi.nlm.nih.gov/pubmed/23227268
http://dx.doi.org/10.1371/journal.pone.0051533