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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

2026-02-13

Abstract excerpt

<h4>Background: </h4> Short stature is a frequent clinical problem with a broad differential diagnosis. Emerging evidence indicates that pathogenic variants in the ACAN gene represent an underrecognized cause of growth failure and are often misclassified as idiopathic short stature.Case presentation: We report two pediatric patients harboring pathogenic ACAN gene variants, both presenting with short stature and di...

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Literature Corpus work: 547c66ca-f007-53e2-b7d2-0a5db64a1a6d
DOI: 10.20944/preprints202602.1069.v1

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