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SGMS2
in primary osteoporosis with facial nerve palsy
Peer-reviewed
Open access
DOI
10.3389/fendo.2023.1224318
Pihlström, Sandra; Richardt, Sampo; Määttä, Kirsi; Pekkinen, Minna; Olkkonen, Vesa M.; Mäkitie, Outi...
Frontiers in endocrinology
2023
Publications information icon
Osteoporosis and skeletal dysplasia caused by pathogenic variants in
SGMS2
Peer-reviewed
Open access
DOI
10.1172/jci.insight.126180
Pekkinen, Minna; Terhal, Paulien A.; Botto, Lorenzo D.; Henning, Petra; Mäkitie, Riikka E.; Roschger...
JCI insight
2019
Publications information icon
Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early-Onset Osteoporosis Due to
SGMS2
Mutations
Peer-reviewed
Open access
DOI
10.1002/jbm4.10537
Mäkitie, Riikka E.; Blouin, Stephane; Valimaki, Ville-Valtteri; Pihlström, Sandra; Määttä, Kirsi; Pe...
JBMR plus
2021
Publications information icon
Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature
Peer-reviewed
Open access
DOI
10.1016/j.bonr.2021.101121
Basalom, Shuaa; Fiscaletti, Melissa; Miranda, Valancy; Huber, Celine; Couture, Guillaume; Drouin, Re...
Bone reports
2021
Publications information icon
A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report
Peer-reviewed
Open access
DOI
10.1007/s00223-021-00878-5
Mäkitie, R.E.; Pekkinen, M.; Morisada, N.; Kobayashi, D.; Yonezawa, Y.; Nishimura, G.; Ikegawa, S.; ...
Calcified tissue international
2021
SGMS2
in primary osteoporosis with facial nerve palsy
Peer-reviewed
Open access
DOI
10.3389/fendo.2023.1224318
2023
Osteoporosis and skeletal dysplasia caused by pathogenic variants in
SGMS2
Peer-reviewed
Open access
DOI
10.1172/jci.insight.126180
2019
Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early-Onset Osteoporosis Due to
SGMS2
Mutations
Peer-reviewed
Open access
DOI
10.1002/jbm4.10537
2021
Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature
Peer-reviewed
Open access
DOI
10.1016/j.bonr.2021.101121
2021
A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report
Peer-reviewed
Open access
DOI
10.1007/s00223-021-00878-5
2021
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