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References from Phenotypic spectrum and quality of life in pediatric Bruck syndrome due to FKBP10 and PLOD2 variants: a 2-center United Arab Emirates experience. Local targets link to admitted publications; unresolved targets remain external evidence.
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans
10.1002/ajmg.a.34025 · 2011 · External reference
Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knockout mice
10.1074/jbc.m608830200 · 2007 · External reference
Phenotypic and molecular characterization of Bruck syndrome caused by a recessive mutation in PLOD2
10.1002/ajmg.a.30231 · 2004 · External reference
A molecular ensemble in the rER for procollagen maturation
10.1016/j.bbamcr.2013.04.008 · 2013 · External reference
Metaphyseal and posterior rib fractures in osteogenesis imperfecta: case report and review of the literature
10.1016/j.bonr.2022.101171 · 2022 · External reference
Osteogenesis imperfecta
10.1016/s0140-6736(15)00728-x · 2016 · External reference
Orthopedic manifestations of Bruck syndrome: a case series with intermediate to long-term follow-up
10.1155/2019/8014038 · 2019 · External reference
New insights on the clinical variability of FKBP10 mutations
10.1016/j.ejmg.2020.103980 · 2020 · External reference
Bruck syndrome in 13 new patients: identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum
10.1002/ajmg.a.62718 · 2022 · External reference
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome–osteogenesis imperfecta phenotypic spectrum
10.1002/humu.22133 · 2012 · External reference
Classification of osteogenesis imperfecta revisited
10.1016/j.ejmg.2009.10.007 · 2010 · External reference
Quality of life in osteogenesis imperfecta: a mixed-methods systematic review
10.1002/ajmg.a.37377 · 2016 · External reference
Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL
10.1186/s12887-018-1077-z · 2018 · External reference
Health-related quality of life in children with osteogenesis imperfecta: a large-sample study
10.1007/s00198-018-4801-5 · 2019 · External reference
Osteogénesis imperfecta: estudio de la calidad de Vida en los niños
10.5546/aap.2013.328 · 2013 · External reference
Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis
10.1186/s13023-023-02728-z · 2023 · External reference
Rare diseases: avoiding misperceptions and establishing realities
10.1007/978-90-481-9485-8_1 · 2010 · External reference
Future of rare diseases research 2017–2027: an IRDiRC perspective
10.1111/cts.12500 · 2018 · External reference
Unresolved reference
2009 · External reference
The PedsQL 4.0 as a pediatric population health measure: feasibility, reliability, and validity
10.1367/1539-4409(2003)003<0329:tpaapp>2.0.co;2 · 2003 · External reference
PedsQL 4.0: reliability and validity of the pediatric quality of life inventory version 4.0 generic core scales in healthy and patient populations
10.1097/00005650-200108000-00006 · 2001 · External reference
Mutations in FKBP10 inhibit the hydroxylation of telopeptide lysines in bone
10.1093/hmg/dds371 · 2013 · External reference
Diagnostic strategies and genotype–phenotype correlation in a large Indian cohort of osteogenesis imperfecta
10.1016/j.bone.2018.02.029 · 2018 · External reference
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations
10.1002/ajmg.a.35938 · 2013 · External reference
Novel mutations in PLOD2 cause rare Bruck syndrome
10.1007/s00223-017-0360-6 · 2018 · External reference
Expanding the clinical spectrum of phenotypes caused by pathogenic variants in PLOD2
10.1002/jbmr.3348 · 2018 · External reference
Expanding the phenotype of Bruck syndrome: severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage
10.1002/ajmg.a.63007 · 2023 · External reference
Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study
10.1007/s00198-015-3216-9 · 2016 · External reference
Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta
10.3892/ijmm.2018.3542 · 2018 · External reference
Significant improvement following intravenous zoledronate therapy in Bruck syndrome 2 due to a rare PLOD2 gene variant
10.1210/jcemcr/luag106 · 2026 · External reference
A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: a case report
10.1016/j.heliyon.2024.e28680 · 2024 · External reference
Case report: exome sequencing identified a novel compound heterozygous variation in PLOD2 causing Bruck syndrome type 2
10.3389/fgene.2021.619948 · 2021 · External reference
Bruck syndrome: a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation
10.5603/ep.2015.0024 · 2015 · External reference
Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients
10.1371/journal.pone.0107594 · 2014 · External reference
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient
10.1016/j.ejmg.2011.10.002 · 2012 · External reference
Abnormal bone collagen cross-linking in osteogenesis imperfecta/Bruck syndrome caused by compound heterozygous PLOD2 mutations
10.1002/jbm4.10454 · 2021 · External reference
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation
10.1016/j.bone.2019.115047 · 2020 · External reference
Kuskokwim syndrome extends the phenotype of FKBP10 mutations
10.1002/humu.22362 · 2013 · External reference
Genetic analysis and functional study of a pedigree with Bruck syndrome caused by PLOD2 variant
10.3389/fped.2022.878172 · 2022 · External reference
Mutation in FKBP10 gene causes Bruck syndrome 1 in a Pakistani family
10.55519/jamc-02-11056 · 2023 · External reference
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome
10.1002/jbmr.250 · 2011 · External reference
Mutations in FKBP10 can cause a severe form of isolated osteogenesis imperfecta
10.1186/1471-2350-12-152 · 2011 · External reference
Bruck syndrome: a rare cause of reduced fetal movements
10.1136/bcr-2021-246786 · 2021 · External reference
Congenital contractures and fractures: a variant of Bruck syndrome type 2
10.7759/cureus.61991 · 2024 · External reference
Presentation of rare phenotypes associated with the FKBP10 gene
10.3390/genes15060674 · 2024 · External reference
Clinical features and molecular characterization of Chinese patients with FKBP10 variants
10.1002/mgg3.2122 · 2023 · External reference
Phenotypic and molecular characterization of Bruck syndrome caused by a recessive mutation in PLOD2
10.1002/ajmg.a.30231 · ExternalCitation · doi-reference
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans
10.1002/ajmg.a.34025 · ExternalCitation · doi-reference
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations
10.1002/ajmg.a.35938 · ExternalCitation · doi-reference
Quality of life in osteogenesis imperfecta: a mixed-methods systematic review
10.1002/ajmg.a.37377 · ExternalCitation · doi-reference
Bruck syndrome in 13 new patients: identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum
10.1002/ajmg.a.62718 · ExternalCitation · doi-reference
Expanding the phenotype of Bruck syndrome: severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage
10.1002/ajmg.a.63007 · ExternalCitation · doi-reference
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome–osteogenesis imperfecta phenotypic spectrum
10.1002/humu.22133 · ExternalCitation · doi-reference
Kuskokwim syndrome extends the phenotype of FKBP10 mutations
10.1002/humu.22362 · ExternalCitation · doi-reference
Abnormal bone collagen cross-linking in osteogenesis imperfecta/Bruck syndrome caused by compound heterozygous PLOD2 mutations
10.1002/jbm4.10454 · ExternalCitation · doi-reference
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome
10.1002/jbmr.250 · ExternalCitation · doi-reference
Expanding the clinical spectrum of phenotypes caused by pathogenic variants in PLOD2
10.1002/jbmr.3348 · ExternalCitation · doi-reference
Clinical features and molecular characterization of Chinese patients with FKBP10 variants
10.1002/mgg3.2122 · ExternalCitation · doi-reference
Rare diseases: avoiding misperceptions and establishing realities
10.1007/978-90-481-9485-8_1 · ExternalCitation · doi-reference
Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study
10.1007/s00198-015-3216-9 · ExternalCitation · doi-reference
Health-related quality of life in children with osteogenesis imperfecta: a large-sample study
10.1007/s00198-018-4801-5 · ExternalCitation · doi-reference
Novel mutations in PLOD2 cause rare Bruck syndrome
10.1007/s00223-017-0360-6 · ExternalCitation · doi-reference
A molecular ensemble in the rER for procollagen maturation
10.1016/j.bbamcr.2013.04.008 · ExternalCitation · doi-reference
Diagnostic strategies and genotype–phenotype correlation in a large Indian cohort of osteogenesis imperfecta
10.1016/j.bone.2018.02.029 · ExternalCitation · doi-reference
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation
10.1016/j.bone.2019.115047 · ExternalCitation · doi-reference
Metaphyseal and posterior rib fractures in osteogenesis imperfecta: case report and review of the literature
10.1016/j.bonr.2022.101171 · ExternalCitation · doi-reference
Classification of osteogenesis imperfecta revisited
10.1016/j.ejmg.2009.10.007 · ExternalCitation · doi-reference
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient
10.1016/j.ejmg.2011.10.002 · ExternalCitation · doi-reference
New insights on the clinical variability of FKBP10 mutations
10.1016/j.ejmg.2020.103980 · ExternalCitation · doi-reference
A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: a case report
10.1016/j.heliyon.2024.e28680 · ExternalCitation · doi-reference
Osteogenesis imperfecta
10.1016/s0140-6736(15)00728-x · ExternalCitation · doi-reference
Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knockout mice
10.1074/jbc.m608830200 · ExternalCitation · doi-reference
Mutations in FKBP10 inhibit the hydroxylation of telopeptide lysines in bone
10.1093/hmg/dds371 · ExternalCitation · doi-reference
PedsQL 4.0: reliability and validity of the pediatric quality of life inventory version 4.0 generic core scales in healthy and patient populations
10.1097/00005650-200108000-00006 · ExternalCitation · doi-reference
Future of rare diseases research 2017–2027: an IRDiRC perspective
10.1111/cts.12500 · ExternalCitation · doi-reference
Bruck syndrome: a rare cause of reduced fetal movements
10.1136/bcr-2021-246786 · ExternalCitation · doi-reference
Orthopedic manifestations of Bruck syndrome: a case series with intermediate to long-term follow-up
10.1155/2019/8014038 · ExternalCitation · doi-reference
Mutations in FKBP10 can cause a severe form of isolated osteogenesis imperfecta
10.1186/1471-2350-12-152 · ExternalCitation · doi-reference
Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL
10.1186/s12887-018-1077-z · ExternalCitation · doi-reference
Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis
10.1186/s13023-023-02728-z · ExternalCitation · doi-reference
Significant improvement following intravenous zoledronate therapy in Bruck syndrome 2 due to a rare PLOD2 gene variant
10.1210/jcemcr/luag106 · ExternalCitation · doi-reference
The PedsQL 4.0 as a pediatric population health measure: feasibility, reliability, and validity
10.1367/1539-4409(2003)003<0329:tpaapp>2.0.co;2 · ExternalCitation · doi-reference
Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients
10.1371/journal.pone.0107594 · ExternalCitation · doi-reference
Case report: exome sequencing identified a novel compound heterozygous variation in PLOD2 causing Bruck syndrome type 2
10.3389/fgene.2021.619948 · ExternalCitation · doi-reference
Genetic analysis and functional study of a pedigree with Bruck syndrome caused by PLOD2 variant
10.3389/fped.2022.878172 · ExternalCitation · doi-reference
Presentation of rare phenotypes associated with the FKBP10 gene
10.3390/genes15060674 · ExternalCitation · doi-reference
Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta
10.3892/ijmm.2018.3542 · ExternalCitation · doi-reference
Osteogénesis imperfecta: estudio de la calidad de Vida en los niños
10.5546/aap.2013.328 · ExternalCitation · doi-reference
Mutation in FKBP10 gene causes Bruck syndrome 1 in a Pakistani family
10.55519/jamc-02-11056 · ExternalCitation · doi-reference
Bruck syndrome: a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation
10.5603/ep.2015.0024 · ExternalCitation · doi-reference
Congenital contractures and fractures: a variant of Bruck syndrome type 2
10.7759/cureus.61991 · ExternalCitation · doi-reference
