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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

Figure 3

Diagnostic flowchart adopted in this study. The diagnostic strategy was based on the clinical evaluation of the patients followed by COL5A1 sequencing, which detected the causal mutation in the large majority of the cases. COL5A2 was investigated when COL5A1 analysis was negative; MLPA analysis was performed when the two previous analyses were not able to detect the causal mutation.

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