An investigation into the genetic basis of autosomal recessive Osteogenesis imperfecta (OI) III in a South African family of mixed ancestry

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dc.contributor.advisorChristoffels, Alan
dc.contributor.authorFernol, Susan Alicia
dc.date.accessioned2023-05-16T09:16:37Z
dc.date.accessioned2024-05-17T07:20:18Z
dc.date.available2023-05-16T09:16:37Z
dc.date.available2024-05-17T07:20:18Z
dc.date.issued2022
dc.description>Magister Scientiae - MScen_US
dc.description.abstractOsteogenesis Imperfecta (OI) is a rare skeletal dysplasia that is primarily characterized by bone fragility, recurrent fractures, and bone deformities. Over the years there has been an increase in the number of genes associated with OI. Currently there are twenty causative genes involved in OI spread across an autosomal dominant form, autosomal recessive form, and an X-linked form. Among the different types of OI, the progressively deforming OI, has more than one causative OI gene associated with it, and both AD and AR mode of inheritance. A severe autosomal recessive form of OI type III has been studied in SA for more than 40 years.en_US
dc.identifier.urihttps://hdl.handle.net/10566/15255
dc.language.isoenen_US
dc.publisherUniversity of the Western Capeen_US
dc.rights.holderUniversity of the Western Capeen_US
dc.subjectGenotypeen_US
dc.subjectBioinformaticsen_US
dc.subjectHeritageen_US
dc.subjectSouth Africaen_US
dc.subjectOsteogenesis imperfectaen_US
dc.titleAn investigation into the genetic basis of autosomal recessive Osteogenesis imperfecta (OI) III in a South African family of mixed ancestryen_US

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