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H431

Osteogenesis imperfecta (OI) is a hereditary disease and is characterised by extremely fragile bones and teeth.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Year Published

General information

Osteogenesis imperfecta (OI) is a hereditary disease and is characterised by extremely fragile bones and teeth. Defects in the structure of the collagen leads to Osteogenesis Imperfecta.

Clinical features

This disease is characterised by extremely fragile bones and teeth. Sometimes also accompanied by other complications like blue sclera, hearing loss, dwarfism and dentinogenesis imperfecta.

Additional information

References

Pubmed ID: 19629171

Omia ID: 1483

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