Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia

COL2A1-related disorders represent a heterogeneous group of skeletal dysplasias with a wide phenotypic spectrum. Our aim is to characterize the clinical and molecular phenotypes of Chinese patients with COL2A1-related dysplasia and to explore their phenotype-genotype relations. Clinical data were co...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Int J Biol Sci
Main Authors: Xu, Yang, Li, Li, Wang, Chun, Yue, Hua, Zhang, Hao, Gu, Jiemei, Hu, Weiwei, Liu, Lianyong, Zhang, Zhenlin
פורמט: Artigo
שפה:Inglês
יצא לאור: Ivyspring International Publisher 2020
נושאים:
Research Paper
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC7019135/
https://ncbi.nlm.nih.gov/pubmed/32071555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7150/ijbs.38811
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