Article
Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Feb 2023
Peris Pilar, Monegal Ana, Mäkitie Riikka E, Guañabens Nuria, González-Roca Eva
Abstract excerpt
Nearly 10% of subjects with severe idiopathic osteoporosis present pathogenic WNT1 mutations. Clinical characteristics include a family history of osteoporosis, early adulthood onset, and fragility fractures which may evolve to pseudoarthrosis. WNT1 should be genetically screened in these patients as the phenotype is often variable and therapeutic approaches may differ. INTRODUCTION: Recent studies have shown...
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