Associated Papers
Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.
Kot A et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot.
Pan Y et al.
Translational Pediatrics, 2023
Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.
Otaify GA et al.
American Journal of Medical Genetics. Part A, 2022
Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.
Yüksel Ülker A et al.
Calcified Tissue International, 2021
New insights on the clinical variability of FKBP10 mutations.
Essawi OH et al.
European Journal of Medical Genetics, 2020
Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid.
Xu XJ et al.
Journal of Human Genetics, 2017
Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.
Zhou P et al.
Plos One, 2014
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.
Barnes AM et al.
Human Mutation, 2013
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