Presentation
The aim of the present study was to evaluate a case of DI using scanning electron microscopy and microanalysis. [iris.univpm.it]
[…] bp, 1kb, 5 kb 100.0% 100.0% Heteroplasmic (50%) 500 bp, 1kb, 5 kb 100.0% 100.0% Heteroplasmic (30%) 500 bp, 1kb, 5 kb 100.0% 100.0% Heteroplasmic (20%) 500 bp, 1kb, 5 kb 99.7% 100.0% Heteroplasmic (10%) 500 bp, 1kb, 5 kb 99.0% 100.0% The performance presented [blueprintgenetics.com]
He presented with a severely affected permanent dentition. His all incisor teeth and four first molar teeth exhibited translucent and opalescent hue, color in dark-yellow to amber. The enamel on the occlusal and lingual surfaces was of serious wear. [journals.plos.org]
Entire Body System
- Rigor
Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. [blueprintgenetics.com]
Gastrointestinal
- Dyspepsia
He was hospitalized because of dyspepsia. He presented with a severely affected permanent dentition. His all incisor teeth and four first molar teeth exhibited translucent and opalescent hue, color in dark-yellow to amber. [journals.plos.org]
Jaw & Teeth
- Premature Loss of Teeth
It is characterized by opalescent primary teeth but normally colored secondary teeth. DD type I involved short roots or rootless teeth and is associated with premature loss of teeth. [blueprintgenetics.com]
Ears
- Progressive Hearing Loss
Some families with type II also have progressive hearing loss in older age. Type II is the most common type of dentinogenesis imperfecta. Type III: usually occurs in people without another inherited disorder. [rarediseases.info.nih.gov]
A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta. [medlineplus.gov]
Xiao SX, Yu C, Chou XM, Yuan WJ, Wang Y, et al. (2001) Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nature Genetics 27: 201–204. View Article Google Scholar 13. [journals.plos.org]