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From Mary Kugler, R.N., Former About.com Guide to Rare Diseases

Gene for Cornelia de Lange syndrome identified

Thursday June 3, 2004
A group of researchers funded by the National Institute of Child Health and Human Development (U.S.). has discovered a gene for Cornelia de Lange syndrome. The syndrome has many symptoms, including mental retardation, behavior issues, impaired growth, hearing loss, and physical abnormalities. The gene for Cornelia de Lange syndrome is located on chromosome 5, and researchers expect this information will lead to development of a genetic test for the disorder.

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