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An LRP6 mutation (Arg360His) associated with low bone mineral density but not cardiovascular events in a Caucasian family
SUMMARY: We present a family with a rare mutation of the LRP6 gene and for the first time provide evidence for its association with low bone mineral density. INTRODUCTION: The Wnt pathway plays a critical role in bone homeostasis. Pathogenic variants of the Wnt co-receptor LRP6 have been associated...
Autores principales: | Puente, Nuria, Vega, Ana I., Hernandez, José L., Fernandez-Luna, Jose L., Riancho, Jose A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer London
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9568478/ https://www.ncbi.nlm.nih.gov/pubmed/35840698 http://dx.doi.org/10.1007/s00198-022-06494-9 |
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