Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre

AIM: To describe the presenting features, bone characteristics and molecular genetics in a large monocentric cohort of children and young adults with idiopathic primary osteoporosis. METHODS: Sixty-six patients (19 children, 47 adults; 28 males, 38 females; age at referral: 3.8 to 65 years) diagnose...

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Detalles Bibliográficos
Autores principales: Rouleau, Coline, Malorie, Margaux, Collet, Corinne, Porquet-Bordes, Valérie, Gennero, Isabelle, Eddiry, Sanaa, Laroche, Michel, Salles, Jean Pierre, Couture, Guillaume, Edouard, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Full Length Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8892094/
https://www.ncbi.nlm.nih.gov/pubmed/35252483
http://dx.doi.org/10.1016/j.bonr.2022.101176

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