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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Vydáno v:J Clin Endocrinol Metab
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2021
Témata:
Clinical Research Articles
On-line přístup: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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