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First proteomic analysis of birth defect demonstrates power of a new technique

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The first proteomic analysis of an animal model of a rare, sometimes deadly birth defect, Smith-Lemli-Opitz Syndrome (SLOS), has revealed that the molecular mechanisms that cause it are more complex than previously understood. SLOS involves multiple neurosensory and cognitive abnormalities, mental and physical disabilities, including those affecting vision and in severe cases, death before the age of 10.

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