Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early‐Onset Osteoporosis Due to SGMS2 Mutations

Pathological variants in SGMS2, encoding sphingomyelin synthase 2 (SMS2), result in a rare autosomal dominant skeletal disorder with cranial doughnut lesions. The disease manifests as early‐onset osteoporosis or a more severe skeletal dysplasia with low bone mineral density, frequent fractures, long...

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Detalles Bibliográficos
Autores principales: Mäkitie, Riikka E., Blouin, Stéphane, Välimäki, Ville‐Valtteri, Pihlström, Sandra, Määttä, Kirsi, Pekkinen, Minna, Fratzl‐Zelman, Nadja, Mäkitie, Outi, Hartmann, Markus A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8567487/
https://www.ncbi.nlm.nih.gov/pubmed/34761145
http://dx.doi.org/10.1002/jbm4.10537

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8567487/
https://www.ncbi.nlm.nih.gov/pubmed/34761145
http://dx.doi.org/10.1002/jbm4.10537

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