Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Comprehensive considerations for the diagnosis, treatment, and management of osteogenesis imperfecta].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Dec 2025

Lyu Xiang-Hong, Dong Jian

Abstract excerpt

Osteogenesis imperfecta (OI) is a rare genetic skeletal disorder most commonly caused by variants in COL1A1 and COL1A2, which encode type I collagen. It is characterized by increased bone fragility, recurrent fractures, and skeletal deformities that adversely affect quality of life. With advances in genetic testing and molecular pathophysiology, diagnosis has evolved from traditional imaging-based assessment to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone Density Conservation Agents
Share to Collagen Type I

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Collagen Type I, alpha 1 Chain

Share to Early Diagnosis

Share to Fractures, Bone

Share to Human Growth Hormone

Share to Mesenchymal Stem Cell Transplantation

Share to Osteogenesis Imperfecta

Source

Open in PubMed Open full text

Identifiers

PMID: 41401950
DOI: 10.7499/j.issn.1008-8830.2505110
PMCID: PMC12708070

Genes

COL1A1
COL1A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Comprehensive considerations for the diagnosis, treatment, and management of osteogenesis imperfecta].PMID 41401950Read ↗

Current Overview of Osteogenesis Imperfecta.Semantic proximity Read ↗

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.Semantic proximity Read ↗

Osteogenesis imperfecta.Semantic proximity Read ↗

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.Semantic proximity Read ↗

Osteogenesis imperfecta—pathophysiology and therapeutic optionsSemantic proximity Read ↗

Osteogenesis imperfecta.Semantic proximity Read ↗

Clinical Manifestations and Medical Imaging of Osteogenesis Imperfecta: Fetal Through Adulthood.Semantic proximity Read ↗

Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Semantic proximity Read ↗

Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta DiseaseSemantic proximity Read ↗

Modern classification and molecular-genetic aspects of osteogenesis imperfectaSemantic proximity Read ↗

Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counselingSemantic proximity Read ↗

Molecular and Clinical Landscape of Osteogenesis Imperfecta: Unraveling Autosomal Recessive Forms, Therapeutic Outcomes, and Bone Mineral Density in Carriers.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.