ReviewFrontiers in endocrinology2022
Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: Novel
Review in Frontiers in endocrinology, 2022. 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
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
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.
- Research progress of short stature and advanced bone age, early-onset osteoarthritis and osteochondritis dissecans (SSOAOD) caused by acan gene mutation.Frontiers in endocrinology · 2026Pooled it
- Aggrecanopathy as an Underrecognized Cause of Idiopathic Short Stature: The Importance of Early Genetic Confirmation for Timely Diagnosis and Management-Case Reports and Literature Review.Diseases (Basel, Switzerland) · 2026Article
- Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN -Related Short Stature.Clinical genetics · 2026Article
- Familial short stature: genetic architecture, risk stratification, and precision management.Frontiers in endocrinology · 2026Review
- Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.Endocrine connections · 2025Article
- Novel ANKRD17 variants implicate synaptic and mitochondrial disruptions in intellectual disability and autism spectrum disorder.Journal of neurodevelopmental disorders · 2025Article
- Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human GH: 3-year Response.Journal of the Endocrine Society · 2024Article
- Adult Height After Growth Hormone and Aromatase Inhibitor Therapy for Short Stature due toAACE endocrinology and diabetesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: This study analyzed eight Chinese short stature children with aggrecan deficiency, and aimed to investigate potential genotype-phenotype correlations, differences in clinical characteristics between the Chinese and the Western populations, and effectiveness of recombinant human growth hormone therapy in patients with Methods: Pediatric short stature patients with Results: We identified seven novel Conclusion: This study further expanded the variation spectrum of the
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.