ArticleWorld journal of clinical cases2022
Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review.
Article in World journal of clinical cases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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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.
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Who cites it
2 citing papers in PubMed.
- 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
- Adult Height After Growth Hormone and Aromatase Inhibitor Therapy for Short Stature due toAACE endocrinology and diabetesArticle
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in the aggrecan ( CASE SUMMARY: A 2-year-old male patient visited us due to growth retardation. The patient presented symmetrical short stature (height 79 cm, < -2 SD) without facial features and other congenital abnormalities. Whole-exome sequencing revealed a heterozygous pathogenic variant c. 871C>T (p. Gln291*) of
conclusionHeterozygous c. 871C>T (p. Gln291*) variation of the
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