RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome

    August 2012 in “ The American Journal of Human Genetics ”
    Susan J. Hassed, Graham B. Wiley, Shaofeng Wang … Patrick M. Gaffney
    Studysummary In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
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