Iron deposit central large nodule in Alagille syndrome
Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder attributed to defects in the Notch signaling pathway. The mutation of Jagged 1 (JAG1) gene on chromosome 20 has been identified as the underlying cause of this syndrome. In addition, the mutation of Ryanodine receptor 2 (RYR2) gene on chromosome 1 has clarified. Here described is […]
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