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Survey of MITF mutations detected in patients with Waardenburg and Tietz syndrome. Black circles and bars, mutations and copy number variations detected in this study; white circles and grey bars, previously published mutations and deletions; grey circles, MITF mutations associated with Tietz syndrome. AD1–3, (trans)activation domains; b, basic domain; HLH, helix–loop–helix domain; LZ, leucine zipper domain.
