Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene

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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Bibliographic Details
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
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Endocrinology
Subjects:
Wnt signaling
fracture
teriparatide
osteogenesis imperfecta
COL1A1
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.918682/full

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https://www.frontiersin.org/articles/10.3389/fendo.2022.918682/full

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