lit-0340
Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre
Rouleau C, Malorie M, Collet C, Porquet-Bordes V, Gennero I, Eddiry S, Laroche M, Salles JP, Couture G, Edouard T (2022). Bone Reports.
Study design and applicability are separate. A rigorous design in an unmatched population is not “strong evidence” for this record.
Status: Bibliographic identity verified (identifier match only). Identifier resolution proves bibliographic identity only; it does not prove that the card summary supports any medical claim, and it is not clinician review. Semantic verification count remains 0 for the catalog.
Filed in v0.4.0 to give H2 a named counter. Reports what a bone fragility gene panel actually finds in people referred for unexplained markedly low BMD for age. The reason it counts against a genetic explanation rather than for one is that the yield is partial - most people referred do not get an answer from the panel - so a genetic cause cannot be assumed from presentation alone. Complements the existing card lit-0294 rather than repeating it.
Record overlap notes (research). early-onset low BMD without an established cause; no gene panel documented in the record
DOI: 10.1016/j.bonr.2022.101176 · PMID: 35252483 · PMCID: PMC8892094
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What cites this on the site
- Hypothesis H2 (contradicting)