Associated Papers
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
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
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
Barnes AM et al.
Human Mutation, 2012
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.
Puig-Hervás MT et al.
Human Mutation, 2012
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