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Article

Downregulation of ACAN is Associated with the Growth hormone pathway and Induces short stature.

Journal of clinical laboratory analysis - 1 Jan 2023

Wu Huiping, Wang Chaoban, Yu Shiwen, Ye Xiaojun, Jiang Yalan, He Pingping, Shan Xiaoou

Abstract excerpt

BACKGROUND: ACAN heterozygous mutations can cause short stature in patients with or without advanced bone age and have recently attracted researchers' attention. Growth hormone can be used to treat short stature induced by ACAN mutations; however, few studies have focused on the underlying mechanism of this treatment. METHODS: Four patients with new mutations were reported based on clinical data and genetic...

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Identifiers

PMID: 36597844
DOI: 10.1002/jcla.24830
PMCID: PMC9937877

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