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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428506/
https://www.ncbi.nlm.nih.gov/pubmed/25888122
http://dx.doi.org/10.1186/s13023-015-0235-8

Ejemplares similares

Ejemplares similares