lit-0287
WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kröger H, Cole WG, Lehesjoki AE, Nevarez L, Krakow D, Curry CJR, Cohn DH, Gibbs RA, Lee BH, Mäkitie O (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.
Landmark NEJM report establishing WNT1 as a human bone-mass gene: heterozygous missense → early-onset osteoporosis; biallelic nonsense → recessive OI. Free PMC full text.
Record overlap notes (research). markedly low BMD for age (~38); spine T-scores to -4.3; historical low T insufficient as sole explanation; fusion deferred for bone quality research
DOI: 10.1056/NEJMoa1215458 · PMID: 23656646 · PMCID: PMC3709450
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