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Clinical and genetic analysis in Chinese children with Alagille syndrome

Clinical and genetic analysis in Chinese children with Alagille syndrome

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_66a92efefcfe4162afb6e5d4cb3d1459

Clinical and genetic analysis in Chinese children with Alagille syndrome

About this item

Full title

Clinical and genetic analysis in Chinese children with Alagille syndrome

Author / Creator

Publisher

England: BioMed Central Ltd

Journal title

BMC pediatrics, 2022-11, Vol.22 (1), p.688-688, Article 688

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Alagille syndrome (ALGS) is a multisystem disorder with variable clinical penetrance. The genes responsible for this disease are JAGGED1 (JAG1) and NOTCH2. Clinical data of this disease are limited in China. The purpose of this study was to enrich the present data of Chinese children with Alagille syndrome by summarizing the clinical characteristic...

Alternative Titles

Full title

Clinical and genetic analysis in Chinese children with Alagille syndrome

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_66a92efefcfe4162afb6e5d4cb3d1459

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_66a92efefcfe4162afb6e5d4cb3d1459

Other Identifiers

ISSN

1471-2431

E-ISSN

1471-2431

DOI

10.1186/s12887-022-03750-z

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