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Article

High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature

27 Jan 2020

Abstract excerpt

CONTEXT: Defining the underlying etiology of idiopathic short stature (ISS) improves the overall management of an individual. OBJECTIVE: To assess the frequency of pathogenic ACAN variants in selected individuals. DESIGN: The single-center cohort study was conducted at a tertiary university children's hospital. From 51 unrelated patients with ISS, the 16 probands aged between 3 and 18 years (12 females) with...

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PMID: 31841439
DOI: 10.1530/eje-19-0771

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