A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children

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 clinic...

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Udgivet i:J Clin Endocrinol Metab
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2021
Fag:
Clinical Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8208663/
https://ncbi.nlm.nih.gov/pubmed/33606014
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgab088
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