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Overview of our study design. This flow diagram illustrates the 3 different parts of our study. The data in thickened boxes was available at the start of the study. A Clinical CHARGE patients with 22q11.2 deletions; B patients with a CHD7 mutation and features of 22q11.2 deletion syndrome; C CHD7 analysis in patients clinically presenting as 22q11.2 deletion syndrome.
