Previously Undescribed Family Mutation in the JAG1 Gene as a Cause for Alagille Syndrome

    loading  Checking for direct PDF access through Ovid

Excerpt

Alagille syndrome (ALGS) is an autosomal dominant illness with a high number of de novo cases. There is an estimated incidence of 1/50,000 per live births (1). An in-depth study of the variable phenotype and the diverse penetrance of different mutations among individuals, even when related, however, explain that this finding may have been underestimated.
    loading  Loading Related Articles