Associated Papers
Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation
Özen S et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Presentation of Rare Phenotypes Associated with the FKBP10 Gene.
Merkuryeva ES et al.
Genes, 2024
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
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.
Caparrós-Martin JA et al.
American Journal of Medical Genetics. Part A, 2013
Osteogenesis imperfecta in Brazilian patients.
Trancozo M et al.
Genetics and Molecular Biology, 0
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