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...
Gorde:
| Egile Nagusiak: | , , , , , , |
|---|---|
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Frontiers Media S.A.
2023-10-01
|
| Saila: | Frontiers in Endocrinology |
| Gaiak: | |
| Sarrera elektronikoa: | https://www.frontiersin.org/articles/10.3389/fendo.2023.1224318/full |
| Etiketak: |
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|