Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome

@inproceedings{Albert2015ImpairedOA,
  title={Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome},
  author={Jessica S. Albert and Nisan Bhattacharyya and Lynne A. Wolfe and William Bone and Valerie V. B. Maduro and John P. Accardi and David R Adams and Charles E. Schwartz and Joy Norris and Tim Wood and Rachel I. Gafni and Michael T. Collins and Laura L Tosi and Thomas C Markello and William A Gahl and Cornelius F. Boerkoel},
  booktitle={Orphanet journal of rare diseases},
  year={2015}
}
BackgroundSnyder-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.MethodsWe performed detailed clinical, endocrine, histopathologic, and… CONTINUE READING
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