osteogenesis imperfecta
SaudiVarKB evidence summary derived from retained literature mentions.
27Phenotype mentions
27Publications
12Associated gene records
10Associated variant records
Associated gene records
Co-mentioned in the same publicationsAssociated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| p.Cys275Tyr | p.Cys275Tyr | 1 | 1 |
| p.Gln133* | p.Gln133* | 1 | 1 |
| p.Arg166His | p.Arg166His | 1 | 1 |
| p.Ser226Leu | p.Ser226Leu | 1 | 1 |
| c.1490G>A | c.1490G>A | 1 | 1 |
| p.Trp497* | p.Trp497* | 1 | 1 |
| c.344G>A | c.344G>A | 1 | 1 |
| p.Arg115Gln | p.Arg115Gln | 1 | 1 |
| c.831dupC | c.831dupC | 1 | 1 |
| p.Trp351Arg | p.Trp351Arg | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | — | 2 | 2 |
| Saudi Arabia | — | 1 | 1 |
| Saudi Arabia | — | 1 | 1 |
| Population record | Cohort 87 | 1 | 1 |
| Saudi Arabia | Cohort 23 | 1 | 1 |
| Population record | Cohort 34 | 1 | 1 |
| Saudi Arabia · Jeddah | Cohort 1 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 19 | 1 | 1 |
| Population record | Cohort 11 | 1 | 1 |
| Population record | Cohort 110 | 1 | 1 |
| Population record | Cohort 687 | 1 | 1 |
Supporting publications
27 records- 2026Impact of preoperative halo-gravity traction on radiographic and surgical outcomes following posterior spinal fusion in osteogenesis imperfecta: a comparative study.Spine deformity1 mentions
- 2026Corrective osteotomy for 111.4-degree tibial procurvatum in osteogenesis imperfecta type III patient: a rare case report with multistage interventions.Journal of surgical case reports1 mentions
- 2025Comprehensive Bibliometric Assessment of the Top 50 Cited Articles on Osteogenesis Imperfecta.Orthopedic reviews1 mentions
- 2023A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.EMBO molecular medicine1 mentions
- 2023Morphological and Ultrastructural Collagen Defects: Impact and Implications in Dentinogenesis Imperfecta.Dentistry journal1 mentions
- 2022A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta.Journal of pediatric endocrinology & metabolism : JPEM1 mentions
- 2022Spinal Cord Ischemia After Lower Extremity Surgery in Pediatric Osteogenesis Imperfecta With Thoracic Kyphoscoliosis: Tertiary Care Center Experience in Jeddah, Saudi Arabia.Cureus1 mentions
- 2021Detection of a Recurrent TMEM38B Gene Deletion Associated with Recessive Osteogenesis Imperfecta.Discoveries (Craiova, Romania)1 mentions
- 2021Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history.Archives of osteoporosis1 mentions
- 2021Outcome of COVID19 in Patients With Osteogenesis Imperfecta: A Retrospective Multicenter Study in Saudi Arabia.Frontiers in endocrinology1 mentions
- 2020Biallelic variants in four genes underlying recessive osteogenesis imperfecta.European journal of medical genetics1 mentions
- 2018Interventions for Improving Bone Mineral Density and Reducing Fracture Risk in Osteogenesis Imperfecta: A Mixed Treatment Comparison Network Meta-analysis of Randomized Controlled Clinical Trials.Current clinical pharmacology1 mentions
- 2018Heterozygous WNT1 variant causing a variable bone phenotype.American journal of medical genetics. Part A1 mentions
- 2017Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations.Journal of pediatric orthopedics1 mentions
- 2016Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.Journal of human genetics1 mentions
- 2016Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.Journal of medical genetics1 mentions
- 2015Are Fassier-Duval rods at risk of migration in patients undergoing spine magnetic resonance imaging?Journal of pediatric orthopedics1 mentions
- 2015Osteotomy Healing in Children With Osteogenesis Imperfecta Receiving Bisphosphonate Treatment.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research1 mentions
- 2013Clinical manifestations and dental management of dentinogenesis imperfecta associated with osteogenesis imperfecta: Case report.The Saudi dental journal1 mentions
- 2012Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.Journal of medical genetics1 mentions
- 2011Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.American journal of medical genetics. Part A1 mentions
- 2011Osteogenesis imperfecta.Saudi medical journal1 mentions
- 2007Second-trimester diagnosis of osteogenesis imperfecta associated with schizencephaly by sonography.Saudi medical journal1 mentions
- 2007Severe cerebellar hypoplasia associated with osteogenesis imperfecta type III.The Journal of pediatrics1 mentions
- 2004Radiological features of bisphosphonate therapy in children with osteogenesis imperfecta.Saudi medical journal1 mentions
- 2001Effect of lower limb Sofield procedure on ambulation in osteogenesis imperfecta.Journal of pediatric orthopedics1 mentions
- 2001Functional outcome of Sofield procedure in the upper limb in osteogenesis imperfecta.Journal of pediatric orthopedics1 mentions