ArticleFrontiers in genetics2021
COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- Rare type I collagen variants in early-onset bicuspid aortic valve disease: Overlap with Ehlers-Danlos syndrome and osteogenesis imperfecta.HGG advances · 2026Article
- Uncovering the role of genetic polymorphisms in cervical insufficiency.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026Review
- Intersecting Pathologies:Diagnostics (Basel, Switzerland) · 2025Article
- Clipping of a ruptured cerebral aneurysm in a toddler: a case report and review of aneurysmal treatment in children.Translational pediatrics · 2024Article
- Bioengineered vascular grafts with a pathogenicScience translational medicine · 2024Article
- Placing joint hypermobility in context: traits, disorders and syndromes.British medical bulletin · 2023Article
- FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands.European journal of human genetics : EJHG · 2023Article
- COL1A2 (p.Gly322Ser) Mutation Causes Late-Onset Osteogenesis Imperfecta: A Case Report.Cureus · 2022Article
- Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.American journal of medical genetics. Part A · 2022Article
- Mouse Dspp frameshift model of human dentinogenesis imperfecta.Scientific reports · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Collagen type I mutations are related to wide phenotypic expressions frequently causing an overlap of clinical manifestations, in particular between Osteogenesis Imperfecta (OI) and Ehlers-Danlos syndrome (EDS). Both disorders present inter- and intra-familial clinical variability and several clinical signs are present in both diseases. Recently, after the observation that some individuals first ascertained by a suspicion of EDS resulted then carriers of pathogenic variants of genes known to primarily cause OI, some authors proposed the term "COL1-related overlap disorder" to describe these cases. In this paper, we report clinical, molecular, and biochemical information about an individual with a diagnosis of EDS with severe joint hypermobility who carries a pathogenic heterozygous variant in
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.