Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the WNT1 Gene and Review of the Literature.

Büşra Eser Çavdartepe,Rojan İpek

Molecular syndromology（2023）

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摘要

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 with mutations, therapies targeting Wnt1 signaling pathway may contribute therapeutic benefits.

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关键词

Neurological findings,Novel mutation,Osteogenesis imperfecta,WNT1 gene,Whole-exome sequencing

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