Osteogenesis imperfecta
Delivery time
8 weeks
Sample
Saliva
855,00€
Osteogenesis imperfecta, also known worldwide as "brittle bone disease," is a rare bone disorder that results in extremely fragile bones, making affected individuals highly susceptible to bone fractures of varying severity. Ninety-five percent of cases of the disease follow an autosomal dominant inheritance pattern and are caused by mutations in the COL1A1 and COL1A2 genes.
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