Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta.
Li L, Mao B, Li S, Xiao J, Wang H, Zhang J, Ren X, Wang Y, Wu Y, Cao Y, Lu C, Gao J, You Y, Zhao F, Geng X, Xiao Y, Jiang C, Ye Y, Yang T, Zhao X, Zhang X.
Li L, et al.
Hum Mutat. 2019 May;40(5):588-600. doi: 10.1002/humu.23718. Epub 2019 Feb 25.
Hum Mutat. 2019.
PMID: 30715774
This study presents a clinical characterization and mutation analysis of 668 patients, aiming to establish the mutation spectrum and to elucidate genotype-phenotype correlations in Chinese OI patients. ...
This study presents a clinical characterization and mutation analysis of 668 patients, aiming to establish the mutation spectrum and …