article_metadata: Peiran Zhou Yi Liu Fang Lv Min Nie Yan Jiang Ou Wang Weibo Xia Xiaoping Xing Mei Li
article_metadata: 10.1371/journal.pone.0107594
article_metadata: PLoS One
article_metadata: 2014 Sep 19;9(9):e107594.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/25238597/
article_metadata: Arthrogryposis / genetics Mutation Osteogenesis Imperfecta / genetics Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / genetics Tacrolimus Binding Proteins / genetics
article_metadata: 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
article_metadata: PMC4169569
article_metadata: 25238597
article_metadata: Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients
article_metadata: 2014