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

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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.
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