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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Clinical Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208663/
https://www.ncbi.nlm.nih.gov/pubmed/33606014
http://dx.doi.org/10.1210/clinem/dgab088

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