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...

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Detalles Bibliográficos
Autores principales: Campopiano, Maria Cristina, Fogli, Antonella, Michelucci, Angela, Mazoni, Laura, Longo, Antonella, Borsari, Simona, Pardi, Elena, Benelli, Elena, Sardella, Chiara, Pierotti, Laura, Dinoi, Elisa, Marcocci, Claudio, Cetani, Filomena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393300/
https://www.ncbi.nlm.nih.gov/pubmed/36004351
http://dx.doi.org/10.3389/fendo.2022.918682

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393300/
https://www.ncbi.nlm.nih.gov/pubmed/36004351
http://dx.doi.org/10.3389/fendo.2022.918682

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