Article
A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.
The Journal of clinical endocrinology and metabolism - 16 Jun 2021
Lin Li, Li Mengting, Luo Jingsi, Li Pin, Zhou Shasha, Yang Yu, Chen Ka, Weng Ying, Ge Xiuying, Mireguli Maimaiti, Wei Haiyan, Yang Haihua, Li Guimei, Sun Yan, Cui Lanwei, Zhang Shulin, Chen Jing, Zeng Guozhang, Xu Lijun, Luo Xiaoping, Shen Yiping
Abstract excerpt
CONTEXT: Aggrecan, encoded by the ACAN gene, is the main proteoglycan component in the extracellular cartilage matrix. Heterozygous mutations in ACAN have been reported to cause idiopathic short stature. However, the prevalence of ACAN pathogenic variants in Chinese short stature patients and clinical phenotypes remain to be evaluated. OBJECTIVE: We sought to determine the prevalence of ACAN pathogenic variants...
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