Article

Clinical and genetic analysis in Chinese children with Alagille syndrome

2022-07-06

Abstract excerpt

<h4>Background: </h4> Alagille syndrome (ALGS) is a multisystem disorder with changeable clinical penetrance. The genes responsible for this disease are JAGGED1 (JAG1) and NOTCH2 . Clinical data of this disease is limited in China. The purpose of this study was to enrich the present data of Chinese children with Alagille syndrome by summarizing clinical characteristics and genetic variation of the cases. Case summ...

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Literature Corpus work: 1acfe5bd-b066-5fad-a911-8dbce0fca42a
DOI: 10.21203/rs.3.rs-1765237/v1

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