ArticleMolecular genetics & genomic medicine2019
Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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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.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature ReviewBiomedicines · 2022Article
- The case of 'A Rhino Horn': case report and proposal for modification to the Hetsroni and Kelly classification.Journal of hip preservation surgery · 2021Article
- Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOsteogenesis imperfecta (OI) is a clinical and genetic heterogeneous group of connective tissue disorders, characterized by bone fragility and a propensity to fracture.
methodsIn this report we describe the clinical phenotype of two patients, a 28-year-old woman and her mother (54 years old), both with a history of short stature and multiple fractures.
resultsExome sequencing revealed the recurring IFITM5:c.-14 C>T variant causing OI type V. Both patients had several fractures during childhood. CT-scan and scintigraphy showed ossification of the origin and attachment of muscles and hypertrophic callus formation.
conclusionOssification of the origin and attachment of muscles seems to be part of the phenotype in patients with OI type V.
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