ArticleIntractable & rare diseases research2018
Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.
Article in Intractable & rare diseases research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
What it found
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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
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review.Frontiers in medicine · 2023Pooled it
- Intersecting Pathologies:Diagnostics (Basel, Switzerland) · 2025Article
- The role of cutaneous manifestations in the diagnosis of the Ehlers-Danlos syndromes.Skin health and disease · 2023Review
- Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.Journal of immunology research · 2022Article
- COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.Frontiers in genetics · 2021Article
- Bone Disease in Patients with Ehlers-Danlos Syndromes.Current osteoporosis reports · 2020Review
- Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.Intractable & rare diseases research · 2019Review
- Splice receptor-site mutation c.697-2A>G of theIntractable & rare diseases research · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Sequencing of genomic DNA revealed a heterozygous
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.