SGMS2 in primary osteoporosis with facial nerve palsy
Pathogenic heterozygous variants in SGMS2 cause a rare monogenic form of osteoporosis known as calvarial doughnut lesions with bone fragility (CDL). The clinical presentations of SGMS2-related bone pathology range from childhood-onset osteoporosis with low bone mineral density and sclerotic doughnut...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Frontiers Media S.A.
2023-10-01
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| Serie: | Frontiers in Endocrinology |
| Soggetti: | |
| Accesso online: | https://www.frontiersin.org/articles/10.3389/fendo.2023.1224318/full |
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