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Article

Non-COL1A1/2 genetic burden and osteoporosis-overlap in patients referred with osteogenesis imperfecta phenotype.

Archives of osteoporosis - 30 Apr 2026

Ozturk Fatma Nihal, Keskin Ece

Abstract excerpt

PURPOSE: Patients referred with an osteogenesis imperfecta (OI) phenotype exhibit marked genetic heterogeneity, and a substantial proportion may harbor variants associated with early-onset osteoporosis (EOO) or OI-mimicking disorders rather than classical collagenopathies. This study aimed to define the genetic spectrum and non-COL1A1/2 variant burden in a cohort clinically diagnosed with OI. METHODS:...

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Share to Collagen Type I
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Share to Heparan Sulfate Proteoglycans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42059978
DOI: 10.1007/s11657-026-01702-z

Genes

COL1A1
COL1A2
FKBP10
P3H1
PLS3
SERPINF1
WNT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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