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

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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Bibliographic Details
Main Authors: Coline Rouleau, Margaux Malorie, Corinne Collet, Valérie Porquet-Bordes, Isabelle Gennero, Sanaa Eddiry, Michel Laroche, Jean Pierre Salles, Guillaume Couture, Thomas Edouard
Format: Article
Language:English
Published: Elsevier 2022-06-01
Series:Bone Reports
Subjects:
Bone mineral density
DXA
Early-onset osteoporosis
Idiopathic juvenile osteoporosis
Primary osteoporosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187222000110

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http://www.sciencedirect.com/science/article/pii/S2352187222000110

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