Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes

    October 2012 in “ Journal of child neurology ”
    Kathleen E. Davis, Kenton R. Holden, Dana S'aulis … William B. Rizzo
    Studysummary In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
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