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Upper part: Previously published mutations considered pathogenic on the basis of transfection studies (9)(10)(11)(8). Note that intronic mutations are not shown(9)(12). Lower part: Newly identified allelic variants in this study. HD: homeodomain. Aminoacids 30–84, first LIM domain; aminoacids 88–150, second LIM domain; aminoacids 155–215, homeodomain (HD).
