Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta

Conclusion Majority of our OI patients have mutations in collagen genes, similar to other OI populations worldwide. Genotype-phenotype analysis revealed that qualitative mutations had more severe clinical characteristics compared to quantitative mutations. It is crucial to identify the causative mutations and the clinical severity of OI patients may be predicted based on the types of mutations.
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research