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A Case of Short Stature Caused by a Mutation in the ACAN Gene

21 Oct 2022

Abstract excerpt

Introduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic changes in the ACAN gene located on chromosome 15q26. In this study, we present a case of short stature caused by mutations in the ACAN gene. Case Presentation: A 3-year-3-month-old male patient was referred to us because of his short stature. Physical examination revealed proportional short...

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PMID: 37064332
DOI: 10.1159/000526166

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