2023
DOI: 10.1007/s12072-023-10578-x
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Management of adults with Alagille syndrome

Abstract: Alagille syndrome (ALGS) is a complex rare genetic disorder that involves multiple organ systems and is historically regarded as a disease of childhood. Since it is inherited in an autosomal dominant manner in 40% of patients, it carries many implications for genetic counselling of patients and screening of family members. In addition, the considerable variable expression and absence of a clear genotype–phenotype correlation, results in a diverse range of clinical manifestations, even in affected individuals w… Show more

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