Associated Papers
Intersecting Pathologies: COL1A1-Related Syndrome in the Setting of Childhood-Onset Hypopituitarism: Case Report and Literature Review.
Pelineagră OE et al.
Diagnostics (basel, Switzerland), 2025
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.
Holtz AP et al.
Bone, 2023
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder.
Foy M et al.
Clinical Case Reports, 2021
Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey.
Demir S et al.
Genetic Testing and Molecular Biomarkers, 2021
COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.
Gnoli M et al.
Frontiers in Genetics, 2021
Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.
Lu Y et al.
Intractable & Rare Diseases Research, 2019
Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease.
Shi J et al.
Frontiers in Pharmacology, 2019
31680973 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.
Lu Y et al.
Intractable & Rare Diseases Research, 2018
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