lit-0293
Mutational Analysis Uncovers Monogenic Bone Disorders in Women with Pregnancy-Associated Osteoporosis: Three Novel Mutations in LRP5, COL1A1, and COL1A2
Butscheidt S, Delsmann A, Rolvien T, Barvencik F, Al-Bughaili M, Mundlos S, Schinke T, Amling M, Kornak U, Oheim R (2018). Osteoporosis International.
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.
n=7 consecutive women with pregnancy-associated osteoporosis; mutational analysis uncovered three novel mutations (LRP5, COL1A1, COL1A2) — 3/7 genetic yield in this small series, not a population rate. Women-only; male applicability is analogy only (physiologic stressors may unmask monogenic fragility). Does not explain spine T −4.3 magnitude by itself.
Record overlap notes (research). early markedly low BMD for age unmasked by stressor; monogenic LRP5/COL1 spectrum; idiopathic OP genetics analogy for men
DOI: 10.1007/s00198-018-4499-4 · PMID: 29594386 · PMCID: —
Open external bibliographic record
Full text is not hosted here. Local PDFs are not published. Paywalled PDFs are never offered.