ArticleAmerican journal of human genetics2010
FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 29 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it.
- EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.European journal of human genetics : EJHG · 2012Guideline
- Pathogenesis and precision management of osteogenesis imperfecta: from genetic mechanisms to novel therapies.World journal of pediatrics : WJP · 2026Review
- The pathogenesis and intersecting mechanisms of monogenic bone mass disorders.Nature reviews. Endocrinology · 2026Review
- Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Clinical science (London, England : 1979) · 2025Review
- Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype CorrelationJournal of clinical research in pediatric endocrinology · 2024Article
- Update on the Genetics of Osteogenesis Imperfecta.Calcified tissue international · 2024Review
- Article
- Bruck syndrome: a rare cause of reduced fetal movements.BMJ case reports · 2021Article
- Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.Calcified tissue international · 2021Article
- Oligogenic Inheritance of MonoallelicFrontiers in genetics · 2021Article
- Article
- IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients.Human genomics · 2019Article
- New Insights Into Monogenic Causes of Osteoporosis.Frontiers in endocrinology · 2019Review
- Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.Molecular genetics & genomic medicine · 2017Article
- Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.American journal of human genetics · 2016Article
- Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.Journal of human genetics · 2016Article
- Animal models of osteogenesis imperfecta: applications in clinical research.Orthopedic research and reviews · 2016Review
- HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.Human molecular genetics · 2015Article
- Genetics and genomic medicine in Saudi Arabia.Molecular genetics & genomic medicine · 2014Article
- A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis.The Journal of biological chemistry · 2014Article
Corrections and comments
- Comment on
- Erratum issued
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.