Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome
2015
Background
Snyder-Robinson Syndrome (SRS) is an X-linked intellectual disability disorder also characterized by osteoporosis, scoliosis, and dysmorphic facial features. It is caused by mutations in SMS, a ubiquitously expressed gene encoding the polyamine biosynthetic enzyme spermine synthase. We hypothesized that the tissue specificity of SRS arises from differential sensitivity to spermidine toxicity or spermine deficiency.
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
56
References
17
Citations
NaN
KQI