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Treacher Collins syndrome gene

Pronunciation: tre'cher kal'inz

Definition: a mutation of the gene is responsible for cases of Treacher Collins syndrome; located at 5q32–33; gene encodes the protein treacle, a possible nucleolar-cytoplasmic transporter.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.