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The cause of the piebaldism is a genetic mutation in the KIT gene, which is located on the long arm of chromosome 4 and encodes the KIT receptor. The KIT receptor plays a role in the migration of melanocytes in the development of the embryo ( embryogenesis ).

This results in certain areas to a lack or to an incorrect distribution of melanocytes, so it is, despite the misleading name, not albinism but leucism. Variants of piebaldism are of - Waardenburg syndrome (associated with a hearing impairment ) and the Wolf syndrome.

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