ReviewIntractable & rare diseases research2013
Advances in research on and diagnosis and treatment of achondroplasia in China.
Review in Intractable & rare diseases research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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.
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Who cites it
6 citing papers in PubMed.
- Real-World Outcomes of Vosoritide Treatment in Chinese Children with Achondroplasia: The Retrospective Cohort COREV Study.Advances in therapy · 2026Observational
- Assessing scale and predictive diversity in models for single-cell transcriptomics based on Geneformer.PLoS computational biology · 2026Article
- Technical Considerations of Complex Primary Total Hip Arthroplasty in a Rare Case of Combined Achondroplasia and Hereditary Multiple Exostosis Syndromes.Journal of orthopaedic case reports · 2020Article
- Coincidental Finding of Twin Dentigerous Cyst in an Achondroplasia Patient.Journal of clinical and diagnostic research : JCDR · 2017Article
- Skeletal Dysplasias: Growing Therapy for Growing Bones.Frontiers in pharmacology · 2017Review
- Molecular Confirmation of G1138A Mutation in FGFR gene in Achondroplasia.JNMA; journal of the Nepal Medical AssociationArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Achondroplasia is a rare autosomal dominant genetic disease. Research on achondroplasia in China, however, has received little emphasis. Around 80-90% of cases of neonatal achondroplasia result from mutations in fibroblast growth factor receptor 3 (FGFR3) according to polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). Recently, genetic research on achondroplasia in China made a major breakthrough by revealing two novel mutations located on the FGFR3 gene, thus helping to complete the pathological molecular map of achondroplasia. There are still, however, unknown aspects of the diagnosis and treatment of achondroplasia. This review will summarize advances in research on and the clinical diagnosis and treatment of achondroplasia in China.
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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.