Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early‐Onset Osteoporosis Due to SGMS2 Mutations
Abstract 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 fractu...
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| Auteurs principaux: | , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Wiley
2021
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| Accès en ligne: | https://doaj.org/article/acebc817b0f14b70aa54dc378913b30f |
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