ArticlePediatric research2026
Phenotypic and genotypic diversity in patients with Chinese aggrecan gene-related short stature.
Article in Pediatric research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe clinical manifestations, progression and therapeutic outcomes associated with ACAN variants exhibit considerable heterogeneity, rendering identification difficult. This characterizes the phenotypic profiles, genotypic spectrum and treatment strategies of Chinese patients with ACAN-related short stature.
methodsWe identified 20 short stature patients from a large single-center cohort who carried heterozygous ACAN variants. Among them, 15 patients received recombinant human growth hormone (rhGH) and/or gonadotropin-releasing hormone analog (GnRHa) therapy.
resultsAll 20 patients had proportionally short stature, with or without mild facial dysmorphism and skeletal abnormalities. Furthermore, a less common characteristic was identified, that is 27.3% (3/11) of the female patients presented with central precocious puberty (CPP). Notably, intellectual disability/global developmental delay (ID/GDD) was observed in four males, a feature hardly documented in ACAN-related disorders. We identified 16 variants, of which 14 were novel. In addition, height improved in all 15 patients after treated with rhGH alone or combined with GnRHa. The clinical spectrum of ACAN variants exhibits extensive heterogeneity.
conclusionsThis study underscores the significant clinical heterogeneity of ACAN-related disorders. Cognitive impairment and signs of early pubertal development were identified in a subset of patients in our cohort, suggesting that the clinical manifestations of ACAN variants may be broader than previously recognized. These observations warrant further evaluation in larger cohorts. IMPACT: We explored the characteristics and genetic profile of ACAN variants. ACAN-related disorders had a diversity of clinical manifestations. ACAN variants should be considered in children with short stature, including those showing subnormal GH responses on stimulation testing, particularly with a family history.
Identifiers
42277182What 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.