lit-0290
PLS3 Mutations in X-Linked Osteoporosis with Fractures
van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pals G, Rehmann H, Wirth B (2013). New England Journal of Medicine.
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.
NEJM discovery of PLS3 (plastin-3) X-linked osteoporosis; five families with pathogenic variants; rare PLS3 variant also associated with fracture risk in elderly heterozygous women.
Record overlap notes (research). markedly low BMD for age in young man; early fractures / low BMD without classic OI; historical low T insufficient sole explanation
DOI: 10.1056/NEJMoa1308223 · PMID: 24088043 · PMCID: —
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