Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene
The WNT1 gene is crucial for bone development and homeostasis. Homozygous mutations in WNT1 cause severe bone fragility known as osteogenesis imperfecta type XV. Moreover, heterozygous WNT1 mutations have been found in adults with early-onset osteoporosis. We identified a 35 year-old Caucasian woman...
Main Authors: | Maria Cristina Campopiano, Antonella Fogli, Angela Michelucci, Laura Mazoni, Antonella Longo, Simona Borsari, Elena Pardi, Elena Benelli, Chiara Sardella, Laura Pierotti, Elisa Dinoi, Claudio Marcocci, Filomena Cetani |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2022-08-01
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Series: | Frontiers in Endocrinology |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2022.918682/full |
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