JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

Abstract

Alagille syndrome is an autosomal dominant disorder that results from defects in the Notch signaling pathway, which is most frequently due to JAG1 mutations. This study investigated the rate, spectrum, and origin of JAG1 mutations in 91 Chinese children presenting with at least two clinical features of Alagille syndrome (cholestasis, heart murmur, skeletal… (More)
DOI: 10.1371/journal.pone.0130355

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