Associated Papers
Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.
Demir K et al.
Odontology, 2025
Presentation of Rare Phenotypes Associated with the FKBP10 Gene.
Merkuryeva ES et al.
Genes, 2024
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
Senturk L et al.
Fetal Diagnosis and Therapy, 2024
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
A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX.
Zhu W et al.
Frontiers in Genetics, 2021
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 mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing.
Velasco HM et al.
The Application of Clinical Genetics, 2017
Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.
Umair M et al.
Journal of Human Genetics, 2016
Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.
Zhou P et al.
Plos One, 2014
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Schwarze U et al.
Human Molecular Genetics, 2013
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.
Setijowati ED et al.
European Journal of Medical Genetics, 2012
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
Alanay Y et al.
American Journal of Human Genetics, 2010
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