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

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 h...

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Библиографические подробности
Опубликовано в: :Orphanet J Rare Dis
Главные авторы: Albert, Jessica S, Bhattacharyya, Nisan, Wolfe, Lynne A, Bone, William P, Maduro, Valerie, Accardi, John, Adams, David R, Schwartz, Charles E, Norris, Joy, Wood, Tim, Gafni, Rachel I, Collins, Michael T, Tosi, Laura L, Markello, Thomas C, Gahl, William A, Boerkoel, Cornelius F
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2015
Предметы:
Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4428506/
https://ncbi.nlm.nih.gov/pubmed/25888122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0235-8
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