ArticleFrontiers in genetics2021
Retrospective Diagnosis of a Novel
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 13 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
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 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
- Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.PloS one · 2026Article
- Genetic Heterogeneity Underlying Familial Short Stature.Diagnostics (Basel, Switzerland) · 2025Article
- Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human GH: 3-year Response.Journal of the Endocrine Society · 2024Article
- Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.Molecular genetics & genomic medicine · 2024Review
- Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature.Journal, genetic engineering & biotechnology · 2024Article
- Identification of selective sweep and associated QTL traits in IranianFrontiers in genetics · 2024Article
- From "Bone reports · 2023Article
- A Case of Short Stature Caused by a Mutation in theMolecular syndromology · 2023Article
- Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.Scientific reports · 2022Article
- Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: NovelFrontiers in endocrinology · 2022Review
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 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Short stature is a frequent disorder in the pediatric population and can be caused by multiple factors. In the last few years, the introduction of Next Generation Sequencing (NGS) in the molecular diagnostic workflow led to the discovery of mutations in novel genes causing short stature including heterozygous mutations 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.