Peiran Zhou Yi Liu Fang Lv Min Nie Yan Jiang Ou Wang Weibo Xia Xiaoping Xing Mei Li
10.1371/journal.pone.0107594
PLoS One
2014 Sep 19;9(9):e107594.
CC BY
https://pubmed.ncbi.nlm.nih.gov/25238597/
Arthrogryposis / genetics Mutation Osteogenesis Imperfecta / genetics Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / genetics Tacrolimus Binding Proteins / genetics
Arthrogryposis / genetics Mutation Osteogenesis Imperfecta / genetics Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / genetics Tacrolimus Binding Proteins / genetics Case Reports Research Support, Non-U.S. Gov't Adult Arthrogryposis / pathology Child Humans Male Osteogenesis Imperfecta / pathology Pedigree PLOD2 protein, human Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase Tacrolimus Binding Proteins FKBP10 protein, human Bruck syndrome 1
PMC4169569
25238597
Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients
2014