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

pubmed: wnt1 2022-06-23

Summary:

CONCLUSION: In this study, we reported the presenting features and bone characteristics in a large cohort of children and young adults with idiopathic primary osteoporosis. Bone fragility gene panel sequencing allowed the identification of genetic variants in a significant proportion of these patients. Molecular diagnosis in these patients is important in order to be able to offer genetic counselling and organise patient management.

Link:

https://pubmed.ncbi.nlm.nih.gov/35252483/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=16uwQpOeqFYN8R4TKOtwPy2utpqy9ex2oldalD2yF_fQHv2caq&fc=None&ff=20220623121703&v=2.17.6

From feeds:

Exome » pubmed: wnt1

Tags:

Authors:

Coline Rouleau, Margaux Malorie, Corinne Collet, Valérie Porquet-Bordes, Isabelle Gennero, Sanaa Eddiry, Michel Laroche, Jean Pierre Salles, Guillaume Couture, Thomas Edouard

Date tagged:

06/23/2022, 12:17

Date published:

03/07/2022, 06:00