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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.

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Figure 2.

Figure 2.

Preferred diagnostic flow in OI

The approach to diagnosis is designed to maximize the likelihood that causative variants will be identified in all affected individuals or assign those without causative variants to research pools. This flow assumes that the clinical diagnosis of OI is well established according to the traditional diagnostic criteria. With clear evidence of OI from radiologic and clinical examination, further analysis should proceed according to the proposed strategy. Functional analysis consists of analysis of proteins and mRNA/cDNA from cultured fibroblasts and also includes COL1A1 null allele testing in certain selected cases.

Reproduced with permission via the Creative Commons License from van Dijk et al [2012]

From: COL1A1/2 Osteogenesis Imperfecta

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