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Article

Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data.

Hormone research in paediatrics - 1 Jan 2024

Renes Judith S, Reedijk Ardine M J, Losekoot Monique, Kant Sarina G, Van der Steen Manouk, Van der Kaay Danielle C M, Hokken-Koelega Anita C S, Van Duyvenvoorde Hermine A, de Bruin Christiaan

Abstract excerpt

INTRODUCTION: Heterozygous variants in the ACAN gene may underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or early-onset osteoarthritis (OA). METHODS: The objective of this study was to describe phenotype, analyze genotype-phenotype correlations, and assess the response of growth hormone (GH) treatment in children with a heterozygous ACAN variant. Thirty-six...

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Identifiers

PMID: 38232712
DOI: 10.1159/000535651

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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