A Non-Lethal Osteogenesis Imperfecta Type II Mutation

Conclusion: The unexpected clinical outcome should serve as a reminder that phenotypic variability can occur with genetic mutations. Our case shows that the diagnosis of the type of OI should be based not only on clinical findings and genetic investigations but also on the clinical course over time.Gynecol Obstet Invest
Source: Gynecologic and Obstetric Investigation - Category: OBGYN Source Type: research