Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the < b > < i > WNT1 < /i > < /b > Gene and Review of the Literature

We report a novel variant with a clinical diagnosis of severe OI, and this review will provide a comprehensive overview of previously published cases of OI type XV. With a better understanding of disorders associated withWNT1 mutations, therapies targeting Wnt1 signaling pathway may contribute therapeutic benefits.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research